The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation.

BACKGROUND: Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility and fragility. Deficiency of lysyl hydroxylase 1 (LH1) due to mutations of PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1) gene has been identified as the pathogenic cause of kEDS (kEDS-PLOD1). Up to now, kEDS-PLOD1 has not been reported among Chinese population. CASE PRESENTATION: A 17-year-old Chinese male patient presenting with hypotonia, joint hypermobility and scoliosis was referred to our hospital. After birth, he was found to have severe hypotonia leading to delayed motor development. Subsequently, joint hypermobility, kyphoscoliosis and amblyopia were found. Inguinal hernia was found at age 5 years and closed by surgery. At the same time, he presented with hyperextensible and bruisable velvety skin with widened atrophic scarring after minor trauma. Dislocation of elbow joint was noted at age of 6 years. Orthopedic surgery for correction of kyphoscoliosis was performed at age 10 years. His family history was unremarkable. Physical examination revealed elevated blood pressure. Slight facial dysmorphologies including high palate, epicanthal folds, and down-slanting palpebral fissures were found. He also had blue sclerae with normal hearing. X-rays revealed severe degree of scoliosis and osteopenia. The Echocardiography findings were normal. Laboratory examination revealed a slightly elevated bone turnover. Based on the clinical manifestations presented by our patient, kEDS was suspected. Genetic analysis revealed a novel homozygous missense mutation of PLOD1 (c.1697 G > A, p.C566Y), confirming the diagnosis of kEDS-PLOD1. The patient was treated with alfacalcidol and nifedipine. Improved physical strength and normal blood pressure were reported after 12-month follow-up. CONCLUSIONS: This is the first case of kEDS-PLOD1 of Chinese origin. We identified one novel mutation of PLOD1, extending the mutation spectrum of PLOD1. Diagnosis of kEDS-PLOD1 should be considered in patients with congenital hypotonia, progressive kyphoscoliosis, joint hypermobility, and skin hyperextensibility and confirmed by mutation analysis of PLOD1.

Validation of the Korean Version of the Body Image Disturbance Questionnaire-Scoliosis.

STUDY DESIGN: Cross-cultural adaptation and validation of the Body Image Disturbance Questionnaire-Scoliosis OBJECTIVE.: The purpose of this study was to evaluate the reliability and validity of an adapted Korean version of the Body Image Disturbance Questionnaire-Scoliosis version (BIDQ-S). SUMMARY OF BACKGROUND DATA: A modified version of the BIDQ instrument has been validated in adolescent idiopathic scoliosis (AIS) to assess the perception of spinal appearance and psychological disturbance. However, there is no culturally adapted, reliable, and validated BIDQ-S for the Korean population. METHODS: Translation/retranslation of the English version of the BIDQ-S was conducted, and all steps of the cross-cultural adaptation process were performed. The Korean version of the BIDQ-S (K-BIDQ-S) and the previously validated appearance domain of the Korean version of the Scoliosis Research Society-22 Outcomes questionnaire (K-SRS-22) and Spinal Appearance Questionnaire (K-SAQ) were mailed to 152 patients with AIS. Reliability assessments were conducted using κ statistics to assess item agreements, and intraclass correlation coefficients (ICCs) and Cronbach α values were calculated. Convergent validity was evaluated by comparing the scores of the K-BIDQ-S, K-SAQ, and K-SRS-22 appearance domain and discriminant validity by analyzing relationships between K-BIDQ-S score and patient characteristics. RESULTS: All items of the K-BIDQ-S had κ values of agreement >0.6. The K-BIDQ-S showed excellent test/retest reliability with an ICC of 0.912. Internal consistency of the K-BIDQ-S was found to be very good (α = 0.880). Convergent validity testing demonstrated good correlations between the K-BIDQ-S and K-SAQ (r = 0.617), and between the K-BIDQ-S and K-SRS-22 (r = -651). The correlation between the K-BIDQ-S and major curve magnitude was significant (r = 0.688). Discriminant validity was confirmed by significant differences in K-BIDQ-S scores among patients requiring observation, bracing, or surgery. CONCLUSION: The K-BIDQ-S showed satisfactory reliability and validity, and thus, is considered suitable for the evaluation of spinal deformity appearance in Korean-speaking patients with AIS. LEVEL OF EVIDENCE: 3.

Cultural Variations in the Minimum Clinically Important Difference Thresholds for SRS-22R After Surgery for Adult Spinal Deformity.

STUDY DESIGN: Longitudinal cohort. OBJECTIVE: To calculate the minimum clinically important difference (MCID) threshold values for the Scoliosis Research Society-22R (SRS-22R) in Japanese patients with adult spinal deformity (ASD) and to compare the results with previously reported values in a North American population. SUMMARY OF BACKGROUND DATA: The SRS-22R has been shown to be reliable, valid, and responsive to change in patients with ASD undergoing surgery. The MCID quantifies a threshold value of improvement that is clinically relevant to the patient. We hypothesize that MCID threshold values of SRS-22R differ between different cultural groups. METHODS: We identified ASD patients who completed the SRS-22R preoperatively and the SRS-30 at minimum two years after surgery. Answers to the last seven questions of the SRS-30 were used as anchors to determine the MCID for the SRS-22R Activity, Pain, Appearance, Mental domains, and Total score using receiver operating characteristic (ROC) curve analysis. RESULTS: A total of 122 (16 male, 106 female) patients were included in the analysis. There was a statistically significant improvement in all domain scores from preoperation to two years postoperation. There was a statistically significant difference in change in domain score among the responses to the anchors (p < .05). The ROC curve analysis yielded MCID values of 0.90 for Activity (area under the curve [AUC] = 0.766), 0.85 for Pain (AUC = 0.637), 1.05 for Appearance (AUC = 0.764), and 0.70 for Mental (AUC = 0.641) domain, 1.05 for Total score (AUC = 0.670). Except for Appearance, these MCID thresholds were higher compared with values reported in patients from North America (Activity = 0.60, Pain = 0.40, Appearance = 1.23, Total = 0.71). CONCLUSIONS: Results of this study showed that cultural variations exist for MCID threshold values for SRS-22 Activity, Pain, Mental domains, and Total score after surgical treatment of ASD.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

OBJECTIVE: To describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified. METHODS: Patients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain (n = 53) were screened for BIN1 mutations. Clinical, histologic, radiologic, and genetic features were analyzed. RESULTS: Eighteen patients from 13 families carried the p.Arg234Cys variant; 16 of them were homozygous for it and 2 had compound heterozygous p.Arg234Cys/p.Arg145Cys mutations. Both BIN1 variants have only been identified in Roma, causing 100% of CNM in this ethnic group in our cohort. The haplotype analysis confirmed all families are related. In addition to clinical features typical of CNM, such as proximal limb weakness and ophthalmoplegia, most patients in our cohort presented with prominent axial weakness, often associated with rigid spine. Severe fat replacement of paravertebral muscles was demonstrated by muscle imaging. This phenotype seems to be specific to the p.Arg234Cys mutation, not reported in other BIN1 mutations. Extreme clinical variability was observed in the 2 compound heterozygous patients for the p.Arg234Cys/p.Arg145Cys mutations, from a congenital onset with catastrophic outcome to a late-onset disease. Screening of European Roma controls (n = 758) for the p.Arg234Cys variant identified a carrier frequency of 3.5% among the Spanish Roma. CONCLUSION: We have identified a BIN1 founder Roma mutation associated with a highly specific phenotype, which is, from the present cohort, the main cause of CNM in Spain.

The association of rs11190870 near LBX1 with the susceptibility and severity of AIS, a meta-analysis.

BACKGROUND: Adolescent idiopathic scoliosis (AIS) is the most common structural deformity of the spine. Genetics constitute largely to AIS, and the rs11190870 polymorphism has the potential for use in public health and clinical settings as a predictor of AIS risk. The aim of the present meta-analysis was to provide exhaustive evidence to evaluate the association of rs11190870 with the susceptibility and severity of adolescent idiopathic scoliosis (AIS) in multiple ethnic groups and different genders. MATERIALS AND METHODS: The professional databases, including PubMed, Embase, Social Sciences Citation Index, CINAHL, and International Bibliography of the Social Sciences, were searched from 1966 to October 2015. No language restriction was applied. Reference lists of all the selected articles were hand-searched for any additional studies. Three authors independently extracted data from all eligible studies. The data were analyzed by meta-analysis using fixed-effects or random-effects models with mean differences and risk ratios for continuous and dichotomous variables, respectively. RESULTS: Eight studies were included, and the pooled analysis suggested that the T genotype of SNP rs11190870 leads to a higher risk of AIS in multiple ethnic groups regardless of gender (Total:OR, 1.66, 95% CI 1.53, 1.79; I2 = 37.3%, P = 0.000, Female: OR, 1.62, 95% CI 1.50, 1.73; I2 = 26.7%, P = 0.000, Male: OR, 1.79, 95% CI 1.38, 2.20; I2 = 0.00%, P = 0.000). Additionally, the TT and TC genotype had a larger Cobb angle than those with the CC genotype in the overall and female Asian populations. CONCLUSION: A significant association of rs11190870 with AIS was observed in multiple ethnic groups regardless of gender. Additionally, a significant association was found between rs11190870 and curve severity in the overall and female Asian populations. Due to the limited data and clinical heterogeneity, further studies with large sample sizes are required.

The Risk of Curve Progression and Surgery in African Americans With Adolescent Idiopathic Scoliosis.

STUDY DESIGN: Retrospective clinical cohort study. OBJECTIVE: To determine if certain risk factors (age, curve magnitude, skeletal maturity, gender, and curve pattern) traditionally associated with curve progression and surgical intervention in the general population apply equally to African Americans. SUMMARY OF BACKGROUND DATA: Currently, information is limited on the role that a patient's race plays in the risk of curve progression of adolescent idiopathic scoliosis (AIS), and existing studies have conflicting results. METHODS: Retrospective search of records identified patients who were African American, had been diagnosed with AIS, had a major curve Cobb angle of 10 degrees or more, and had at least two clinical visits with spinal radiographs at least 90 days apart to determine the risk factors for surgical treatment, and 2 years apart to determine the risk factors for curve progression. Patients with a medical condition likely to cause scoliosis were excluded. RESULTS: Of 738 African American patients with AIS, 223 were assessed for surgical risk factors, and 72 were assessed for curve progression risk factors. Fifty-six (29.17%) had progression of the major coronal curve, and 38 (17.04%) underwent surgery. Age at presentation and curve magnitude at presentation were significant risk factors for surgical intervention. Curve magnitude at presentation was a significant risk factor for curve progression. No significant relationships were found for gender or curve type as they relate to surgical intervention or curve progression. CONCLUSION: Age and curve magnitude at presentation were significantly associated with surgery, as is true in other scoliosis populations. Curve magnitude at presentation was associated with curve progression. In contrast to studies in other populations, however, no significant association was observed between curve progression and age at presentation, curve type, or gender, or between surgery and curve type or gender. LEVEL OF EVIDENCE: Level III, prognostic cohort study.

Association of IL-6 and MMP-3 gene polymorphisms with susceptibility to adolescent idiopathic scoliosis: a meta-analysis.

Recently, several institutions have investigated the associations of MMP-3-1171 5A/6A and IL-6-174-G/C gene polymorphisms with adolescent idiopathic scoliosis (AIS), while reports from different institutions are not consistent. Therefore, we, comprehensively and systematically performed this meta-analysis to detect whether the two gene polymorphisms are correlated with AIS. From January 1994 to October 2015, all case-control studies focussed on the relationship between the two aforementioned gene polymorphisms and the susceptibility to AIS were retrieved from bibliographic databases. A total of 16 articles were found, of which five consisted of 944 cases and 1177 controls, were finally included after being assessed by two reviewers. We calculated the pooled odds ratio (OR) with 95% confidence interval (95% CI) to assess the associations. The pooled data analyses were based on allele contrast, homozygote, heterozygote, dominant and recessive models. Overall, there was no significant association of IL-6-174-G/C gene polymorphism with AIS risk. Significant association was observed in homozygote model of MMP-3-1171-5A/6A gene polymorphism (5A5A versus 6A6A: OR = 1.69, 95% CI = 1.11-2.58, P = 0.02). When stratified into Caucasian and Asian populations, positive association was found in Caucasian population (5A versus 6A: OR = 1.43, 95% CI = 1.11-1.84, P = 0.006; 5A5A versus 6A6A: OR = 1.90, 95% CI = 1.13-3.19, P = 0.015); however, there was no significant association in Asian population. The present study concluded that 5A5A genotype of MMP-3-1171 5A/6A gene polymorphism was associated with AIS, especially in Caucasian population. However, no significant association was detected between IL-6-174-G/C gene polymorphism and AIS.

Disease severity and treatment in adolescent idiopathic scoliosis: the impact of race and economic status.

BACKGROUND CONTEXT: Ethnic disparities have been documented in the incidence and treatment of many diseases. Additionally, race and socioeconomic status (SES) have been shown to affect disease severity and access to care in the recent orthopedic literature. PURPOSE: To assess the role, if any, that race, SES, and health insurance type play in disease severity and treatment decisions in patients with adolescent idiopathic scoliosis. STUDY DESIGN: Retrospective chart review. PATIENT SAMPLE: Pediatric patients seen in a single surgeon's practice over 6 years (2004-2009). OUTCOME MEASURES: Treatment modality (observation, bracing, or surgery). METHODS: Data were obtained from 403 patients seen over 6 years (2004-2009). A patient-reported questionnaire was used to collect race, age, family income, and parent marital status data. Race was self-reported as "Asian," "black or African American," "Hispanic or Latino," "white or Caucasian," or "Other." Socioeconomic status was determined using family income and type of health insurance as indicators. Major curve magnitude and prescribed initial treatment (observation, brace, or surgery) were assessed from physician records. An independent sample t test was used to detect differences in curve magnitude of the different racial groups. A Pearson chi-square analysis was used to detect group differences for curves in surgical patients, defined as curves greater than 40°, and their initial treatment. RESULTS: Patients self-identified with one of the following racial groups: white (N=219), black (N=86), Hispanic (N=44), Asian (N=37), or Other (N=17). Mean curve magnitude was greater in black than in white patients (33° vs. 28°, p<.05). Black patients were more likely to present with curves in the surgical range (34% vs. 24%, p<.05) and were more likely to have surgery as their initial treatment than white patients (34% vs. 19%, p<.05). Black patients had more limited health care plans and lower incomes compared with whites (p<.001). Patients with higher access insurance plans presented at a younger age than patients with more limited access plans, irrespective of race (13.6 vs. 14.1, p<.05). There was no difference in Cobb angle at presentation by income or type of insurance. CONCLUSIONS: Curve magnitude and percentage of patients with curves in the surgical range were greater in black than in white patients. There was no difference in age on presentation or treatment offered across all racial groups. Black patients were more likely to have surgery as their initial treatment than white patients. While race did have an impact on disease severity in this single surgeon's practice, SES did not.

Association of COL2A1 gene polymorphism with degenerative lumbar scoliosis.

BACKGROUND: Degenerative lumbar scoliosis (DLS) progresses with aging after 50-60 years, and the genetic association of DLS remains largely unclear. In this study, the genetic association between collagen type II alpha 1 (COL2A1) gene and DLS was investigated. METHODS: COL2A1 gene polymorphism was investigated in DLS subjects compared to healthy controls to investigate the possibility of its association with COL2A1 gene. Based on a single nucleotide polymorphism (SNP) database, SNP (rs2276454) in COL2A1 were selected and genotyped using direct sequencing in 51 patients with DLS and 235 healthy controls. The SNP effects were analyzed using three models of codominant, dominant, and recessive. Logistic regression models were calculated for odds ratios (ORs) with 95% confidence intervals (CIs) and corresponding p-values, controlling age and gender as co-variables. RESULTS: SNP (rs2276454) in COL2A1 was significantly associated with the degenerative lumbar scoliosis in the codominant (OR, 1.90; 95% CI, 1.17 to 3.10; p = 0.008) and dominant models (OR, 3.58; 95% CI, 1.59 to 9.29; p = 0.001). CONCLUSIONS: The results suggest that COL2A1 is associated with the risk of DLS in Korean population.

A replication study for association of 5 single nucleotide polymorphisms with curve progression of adolescent idiopathic scoliosis in Japanese patients.

STUDY DESIGN: A genetic association study of single nucleotide polymorphisms (SNPs) previously reported to be associated with curve progression of adolescent idiopathic scoliosis (AIS). OBJECTIVE: To determine whether the association of 5 SNPs with curve progression reported in Chinese with AIS are replicated in Japanese patients with AIS. SUMMARY OF BACKGROUND DATA: AIS is a common spinal deformity and has a strong genetic predisposition. Predicting curve progression is important in clinical practice. The progression of AIS is reported to be associated with a number of genes. Associations with neurotrophin 3, G protein-coupled estrogen receptor, and tissue inhibitor of metalloproteinase 2 have been reported in Han Chinese with AIS; however, there has been no replication study for them. METHODS: We recruited 2117 patients with AIS with a Cobb angle of 10° or greater of scoliosis curves. They were grouped into progression and nonprogression groups according to their scoliosis curves. Patients whose scoliotic curves were 40° or greater were included in the progression group, and those whose scoliotic curves were less than 30° and had reached skeletal maturation in the nonprogression group. We evaluated the association of 5 SNPs (rs11063714 in neurotrophin 3, rs3808351, rs10269151, and rs4266553 in G protein-coupled estrogen receptor, and rs8179090 in tissue inhibitor of metalloproteinase 2 with curve progression by comparing risk allele frequencies between the 2 groups and the mean Cobb angle for each genotype. RESULTS: We evaluated the progression (N = 880) and nonprogression (N = 492) subjects, and their risk allele frequencies were not significantly different. The mean Cobb angle for each genotype also did not have statistical difference. We found no replication of the association on AIS curve progression in any of the SNPs. CONCLUSION: The associations of the 5 SNPs with progression of AIS curve are not definite. Large-scale association studies based on appropriate criteria for progression would be necessary to identify SNPs associated with the curve progression.

Development of the Simplified Chinese Version of the Spinal Appearance Questionnaire: cross-cultural adaptation and psychometric properties evaluation.

STUDY DESIGN: Cross-cultural adaptation and psychometric testing of the Spinal Appearance Questionnaire (SAQ). OBJECTIVE: To evaluate the reliability and validity of simplified Chinese version of the SAQ (SC-SAQ). SUMMARY OF BACKGROUND DATA: The SAQ is widely used to assess the perception of spinal appearance in patients with adolescent idiopathic scoliosis (AIS). However, there is no culturally adapted, reliable, and validated SAQ for mainland China. METHOD: The cross-cultural adaptation of the original SAQ was performed following international guidelines. The SC-SAQ was administered concurrently with the simplified Chinese version of the Scoliosis Research Society-22 (SC-SRS-22) questionnaire to 223 patients with AIS. A total of 92 patients were randomly selected to complete the questionnaires again 4 to 7 days after the first completion. Psychometric testing included reliability by internal consistency and test-test reliability, convergent validity by comparing the SC-SAQ with the SC-SRS-22 appearance domain, and discriminant validity by analyzing the relationship between SC-SAQ scores and patients' characteristics. RESULT: Internal consistency for the SC-SAQ was satisfactory, with intradomain correlations ranging from r = 0.526 to r = 0.808 (P, 0.0001). The test-retest reliability for the SC-SAQ was excellent with intraclass correlation coefficient of 0.933 (95% confidence interval = 0.903-0.956) and good Bland-Altman agreement. (No systematic bias was found in the Bland-Altman plot.) Convergent validity test demonstrated a moderate correlation between the overall SC-SAQ and SC-SRS-22 appearance domain, with ρ = -0.401 (P, 0.0001). Correlation between the overall SC-SAQ and the major curve magnitude was significant, with r = 0.827 (P, 0.0001). Discriminant validity was confirmed by significant differences of overall SC-SAQ and individual domain scores among the 6 subgroups categorized by the major curve magnitude (P, 0.0001) and among patients requiring exercise, bracing, or surgery (P, 0.0001). CONCLUSION: The SC-SAQ showed satisfactory reliability and validity in the evaluation of spinal deformity appearance for patients with AIS in mainland China.

Comparison of sagittal spinopelvic alignment in Chinese adolescents with and without idiopathic thoracic scoliosis.

STUDY DESIGN: A retrospective radiographical study investigated the sagittal alignment in healthy Chinese girls and Chinese girls with idiopathic thoracic scoliosis (T-AIS). OBJECTIVE: To evaluate the sagittal alignment of the pelvis and spine in Chinese girls with idiopathic scoliosis and healthy girls and to assess whether the pelvic morphology differed between white and Chinese girls with AIS. SUMMARY OF BACKGROUND DATA: It has been shown that patients with AIS have an abnormal spinopelvic balance and pelvic morphology. Race is a determinant factor of sagittal spinal alignment and serves as a reminder when planning surgical reconstruction for spinal deformity. Until now, there have been no studies documenting the sagittal lumbosacral spine morphology in Chinese girls with T-AIS. METHODS: In this study, 95 patients with T-AIS and 33 healthy age-matched adolescents were recruited consecutively. Sagittal spinal and pelvic parameters were measured from the standing lateral radiograph, including thoracic kyphosis (TK), lumbar lordosis (LL), upper arc of LL, lower arc of LL, pelvic incidence (PI), sacrum slope (SS), and pelvic tilt (PT). Analysis of variance was used in the comparison of each dependent variable between patients with AIS and healthy adolescents. The relations between all parameters were determined via Pearson correlation coefficient (r). RESULTS: For all the sagittal parameters, only the TK and the upper arc of the LL showed significant differences between girls with AIS and healthy girls. The LL, lower arc of the LL, and 3 pelvic parameters were similar for both groups. The TK was found to be strongly correlated with LL and the upper arc of the LL in both groups. However, the TK was not related to the lower arc of the LL, nor were the 3 pelvic parameters in either group. In addition, LL was found to be associated with PI and SS in both groups. The lower arc of the LL was also correlated with PI for both groups. The PI was related to PT and SS in both groups; however, no correlation was found between PT and SS. In this study, the TK (15.7°), SS (35.1°), and PI (44.2°) were found to be significantly lower in Chinese patients with T-AIS than the values reported in the AIS cohort. CONCLUSION: In our study, the Chinese girls with T-AIS had similar PI, PT, and SS values when compared with the age-matched healthy girls. There were significant differences in pelvic morphology between Chinese and white girls with AIS. These results suggest that race may influence an individual's spinopelvic morphology. Although we have shown that the TK could affect LL through the upper arc of the LL directly, the evaluation of the thoracolumbar morphology of T-AIS before surgery is important for surgical planning.

Scoliosis in adults aged forty years and older: prevalence and relationship to age, race, and gender.

STUDY DESIGN: Retrospective study. OBJECTIVE: To identify the prevalence of lumbar scoliosis in adults ≥ 40 years old; to investigate relationships between scoliosis prevalence and 3 parameters (age, race, gender); and to determine any effect of those parameters on curve severity. SUMMARY OF BACKGROUND DATA: As the population ages, the incidence of degenerative spine conditions increases. More patients are being diagnosed with and treated for spinal deformities, including scoliosis. METHODS: We examined dual-energy x-ray absorptiometry lumbar spine images of 3185 individuals ≥ 40 years old (average, 60.8 years; range, 40-97 years), obtained July 2002 to June 2005, to determine the presence of scoliosis (i.e., a curvature of ≥ 11.0°) by digitally measuring Cobb angles. Patients with a history of previous lumbar spinal surgery were excluded, leaving 2973 individuals for final evaluation. We used SAS system software, version 9.1 (SAS Institute, Inc., Cary, NC) to investigate the relationship between the prevalence of scoliosis and the variables of age, race, and gender, we then examined for any effect that these variables had on curve severity. RESULTS: We identified scoliosis (i.e., a Cobb angle of ≥ 11°) in 263 of 2973 patients. Age was associated with an increased prevalence of scoliosis, e.g., 40 to 50 years old, 3.14%; ≥ 90 years old, 50%. Prevalence rates differed among races (e.g., 11.1% for whites and 6.5% for African Americans) but were similar for men and women. Most patients had mild curves (80.6%), there was no difference in the distribution of curve severity by gender or age, and African Americans were more likely to have mild curves (94.3%) than were other races. CONCLUSION: The prevalence of scoliosis in our patients ≥ 40 years old was 8.85% and was associated with age and race, but not with gender. Most curves in our population were mild; curve severity was associated with race but not with age or gender.

Cross-cultural comparison of the Scoliosis Research Society Outcomes Instrument between American and Japanese idiopathic scoliosis patients: are there differences?

STUDY DESIGN: A comparative study. OBJECTIVE: To report a preliminary evaluation of the Scoliosis Research Society Outcomes Instrument (SRS-24) and determine whether differences in baseline scores exist between American and Japanese patients with idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: Because the SRS outcomes instrument was primarily introduced for the American population, baseline scores in the Japanese population might differ from the American population. A comparative study using the SRS instrument between American and Japanese patients with idiopathic scoliosis has not been reported. METHODS: Two comparable groups of 100 idiopathic scoliosis patients before spinal fusion were separated into American (A) and Japanese (J). There were no statistically significant differences between the groups for gender (A: 9 men/91 women vs. J: 13 men/87 women), age (A: 15.0 +/- 2.4 vs. J: 14.9 +/- 3.8), main curve location (A: 77 thoracic/23 lumbar, J: 76 thoracic/24 lumbar), main curve Cobb angle (A: 50.5 +/- 5.2 vs. J: 51.1 +/- 8.7), and thoracic kyphosis (A: 20.9 +/- 14.3 vs. J: 19.9 +/- 12.1) (P > 0.05, for all comparisons). Patients were evaluated using the first section of the SRS-24 which was divided into 4 domains: total pain, general self-image, general function, and activity. SRS-24 scores were statistical compared in individual domains and questions using the Mann-Whitney U test. RESULTS: American patients had significantly lower scores in pain (P < 0.0001, A: 3.7 +/- 0.8 vs. J: 4.3 +/- 0.4), function (P < 0.01, A: 3.9 +/- 0.6 vs. J: 4.2 +/- 0.5), and activity (P < 0.0001, A: 4.5 +/- 0.8 vs. J: 4.9 +/- 0.3) domains compared with Japanese patients. Japanese patients had significantly lower scores in the self-image (P < 0.0001, A: 4.0 +/- 0.7 vs. J: 3.5 +/- 0.5) domain. With regard to individual questions, there were significant differences in the scores between the 2 groups for all questions except 5 and 13 (P < 0.05, for all comparisons). CONCLUSION: SRS-24 scores in the Japanese idiopathic scoliosis population differed from that of the American population. Japanese patients had less back pain, a negative self-image regarding back deformity, higher general physical function, and daily activity. It is highly probable that patient's perceptions differ due to cultural differences, which affect SRS-24 scores so a cross-cultural comparison of the SRS instrument content is necessary in the future.

Evaluación postural de individuos mapuche de la zona costera de la IX Región de Chile / Postural evaluation of mapuche individuals in the coastal area of the IX Region in Chile

El grupo étnico mapuche tiene una amplia distribución de asentamiento, predominantemente, en la zona costera de la IX Región de Chile, caracterizado por el aislamiento de centros urbanos e instituciones de la sociedad global chilena. Numerosos factores han sido considerados determinantes en una buena postura, entre ellos, los aspectos étnicos. Por tal motivo, nos propusimos identificar alteraciones a través de una evaluación postural en un grupo de individuos mapuche. Realizamos un estudio postural en 62 individuos (34 mujeres y 28 hombres) pertenecientes al grupo étnico mapuche, entre 3 y 70 años de edad, de reducciones de la zona costera de la IX Región de Chile. La evaluación postural se efectuó en horas de la mañana, de acuerdo al método de Kendall. Observamos la presencia de alteraciones a nivel de columna en el 35, por ciento de los individuos adultos, acompañados de giba costal. En la región pélvica la anteversión de cadera se presentó en el 44 por ciento de los individuos. El genu valgo se observó en el 51,6 por ciento y el recurvatum en el 32,3 por ciento de los individuos mapuche. El medio ambiente heterogéneo en los cuales habitan y cómo desarrollan sus actividades, podría estar influyendo en la postura de los individuos evaluados.

[Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases]. / Gamma-sarcoglicanopatía: estudio clinicopatológico y genético de 11 casos.

INTRODUCTION: Limb Girdle Muscular Dystrophy type 2C (LGMD2C) is an autosomal recessive dystrophy due to the deficit of gamma-sarcoglycan, one of the proteins of the dystrophin-associated proteins complex (DAP). A new mutation in the gamma-sarcoglycan gene, 13q12, has been described recently and is exclusive of the gypsy community. OBJECTIVE: To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y. MATERIAL AND METHODS: We describe a large gypsy family with the C283Y mutation and eleven affected patients. We have performed an extensive clinical and pathological study with immunohistochemistry and Western blot analyses in the eleven patients and a genetic study of a total of twenty-seven members of the family. RESULTS: The patients presented a severe muscular dystrophy with a dystrophic pattern in the muscle biopsy, normal immunolabeling for dystrophin, very weak for alpha-, beta- and delta-sarcoglycan and absent for gamma-sarcoglycan. These eleven patients were found to be homozygous for the mutation and twelve other members of the family, heterozygous. CONCLUSIONS: The clinical picture and the evolution of the disease herein described is similar to that observed in DMD. Two fundamental differences were found: the autosomal recessive mode of inheritance, and the normal immunohistochemistry and immunoblot for dystrophin in the skeletal muscle.