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Background The CHD7 (chromosome domain helicase DNA binding protein 7) gene has been associated with familial idiopathic scoliosis (IS) in families of European descent. The CHD7 single-nucleotide polymorphisms have never been studied in Polish Caucasian IS patients. Methods The aim of this study was to investigate the relationship of CHD7 gene polymorphisms with susceptibility to or progression of IS in Polish Caucasian females. The study group comprised 211 females who underwent clinical, radiological and genetic examination. The study group was analyzed in three subgroups according to: (1) Cobb angle (Cobb angle ≤30° vs. Cobb angle ≥35°), (2) age of diagnosis (adolescent IS vs. early-onset IS) and (3) rate of progression (non-progressive vs. slowly progressive vs. rapidly progressive IS). The control group comprised 83 females with no scoliosis and with a negative family history who underwent clinical and genetic examination. In total six CHD7 gene polymorphisms were examined. Three polymorphisms (rs1017861, rs13248429, and rs4738813) were examined by RFLP (restriction fragment length polymorphism) analysis, and three were quantified by Sanger sequencing (rs78874766, rs4738824, and rs74797613). Results In rs13248429, rs78874766, and rs74797613 polymorphisms only the wild allele was present. The rs1017861 polymorphism demonstrated an association with IS susceptibility (p p CHD7 gene showed any association with the age of IS onset. Conclusions The polymorphism rs1017861 in CHD7 gene showed an association with IS susceptibility. Two polymorphisms (rs1017861 and rs4738813) were associated with curve severity and progression rate. None of the evaluated polymorphisms in CHD7 gene showed any association with the age of IS onset. Further evaluation of CHD7 gene should be considered as IS modifying factor.

Background The age at menarche (AAM) is commonly in use in patients with IS as one of the maturity indicator suggesting deceleration of the growth velocity. The AAM was suggested to be related to predisposition and curve progression potential of IS. The late age at menarche was reported to be associated with higher prevalence of adolescent idiopathic scoliosis. The age at menarche is determined by both genetic and environmental factors as well as their interactions. Estrogen receptors 1 and 2 polymorphism were reported to be associated with AAM: in ESR1 XbaI and PvuII site polymorphism and in ESR2 AluI site polymorphism. The purpose of the study was to investigate associations of the ESR1 and ESR2 polymorphisms with AAM in IS patients and to evaluate association of AAM with IS severity. Methods 208 females with IS Caucasian females from Central Europe underwent clinical, radiological and genetic examinations. Four SNPs were selected XbaI (A/Grs9340799) and PvuII (C/T rs2234693) in ESR1 and AluI (A/G rs4986938) and RasI (A/G rs1256049) in ESR2. Samples were analyzed with polymerase chain reaction followed by restriction fragments length polymorphism analysis (PCR-RFLP). The age of a menarche was established during personal interview with the patients and in case of children with their parents. The Cobb angle was measured. Results All genotypes followed HWE. Mean AAM for patients was 154.8 ± 14.7 months (12.9 ± 1.2 years). The earliest AAM was 121 and latest 192 months. There was no statistically significant difference between AAM mean values in each genotype, for the XbaI, PvuII, AluI and RsaI site polymorphisms the p values were p = 0.7141, p = 0.9774, p = 0.7973 and p = 0.2282, respectively. Patients divided according to Cobb into mild (

Material and methods The study involved 80 adolescents (71 girls and 9 boys), fulfilling the inclusion criteria: age range between 11.0 and 16.0 years, Cobb angle range between 20 and 45 degrees, wearing Cheneau orthosis for more than 3 months, at least 12 hours per day. The group was analyzed in subgroups according to (1) age: 11.0-13.0 years (n=40) versus 14.016.0 years (n=40), (2) brace wearing time: less than 20h (n=45) versus more than 20h per day (n=35), (3) place of residence: village (n= 34), town (n= 20) or city (n= 26). Maximal angle of trunk rotation (ATR max) was measured using Bunnell scoliometer. Bad Sobernheim Stress Questionnaires (BSSQ), both the Brace and the Deformity versions were used, the former estimates the stress the patients have whilst wearing brace, the latter estimates the stress induced with body deformation.

Objectives Estrogens and their receptors are postulated to be important factors in development of idiopathic scoliosis. Transcription functions of estrogen receptors are influenced by coregulators such as proline, glutamic acid, and leucine rich protein 1 (PELP1). Deep paravertebral muscles are potential elements participating in idiopathic scoliosis development. The aim of the present study was to evaluate PELP1 mRNA expression levels and the protein presence in deep paravertebral muscles on both sides of the spinal curve and correlation between the expression level and scoliosis parameters.

Objectives In estrogen receptor 2 (ESR2) gene the rs1256120 polymorphism was described to be associated with predisposition to and severity of idiopathic scoliosis (IS) in Chinese population. This observation has not been confirmed in Japanese population. The ESR2 AluI and RasI site polymorphisms were described to present association with breast cancer, rheumatoid arthritis and bone mineral density, however the association with IS has not been evaluated. The purpose of the study was to investigate associations of the ESR2 polymorphisms with either predisposition to or progression of IS in Central European population.

Methods Kidscreen-27 consists of five Rasch scaled dimensions: Physical Well-Being (5 items), Psychological Well-Being (7 items), Autonomy & Parents (7 items), Peers & Social Support (4 items), and School Environment (4by items). Answers are pointed from 0 to 4. The higher the score the better the QoL. In the evaluation Kidscreen-27 questionnaire was used for AIS and healthy adolescents. Kidscreen-27 for parents/ care-givers was used additionally. Answering the Kidscreen-27 require 10-15 minutes. Results The age of examined group with AIS was 13.5 ± 1.6 years. Cobb angle was 31.0 ± 8.1 degrees. The age of control group was 13.6 ± 1.7 years. In dimension, Peers & Social Support, AIS and their parents/care-givers achieved lower results (10.65 ± 3.13 AIS and 9.13± 3.09 parents/caregivers) than in other dimensions. There were significant differences between AIS and their parents/care-givers in dimensions of Physical Well-Being (p=0.023) and Peers & Social Support (p

Methods The study group included 147 Caucasian girls with IS, aged 9-18 years (mean 13.6 ±2.2), Cobb angle range 11°65°, mean 27.9 ±11.9, comprising 42 single thoracic, 31 single lumbar and 74 double curve scoliosis. According to the Cobb angle, there were 70 mild (10-24o), 54 moderate (25-40o) and 23 severe (> 45o) curves. The control group included 147 girls aged 9-18 years (mean 13.1 ±.3), selected at random from the group of 300 girls free of IS (angle of trunk rotation

Methods It involved 59 adolescents, (50 girls, 9 boys), ages ranging between 10.0 and 17.0 years, all with Adolescent Idiopathic Scoliosis (AIS) with Cobb angle between 20-58 degrees. The adolescents were wearing the same kind of brace (Cheneau orthosis) for more than 6 months, for at least 16h per day. Three questionnaires were used: Trunk Appearance Perception Scale (TAPS), Bad Sobernheim Stress Questionnaire (BSSQ Brace, BSSQ Deformity), and Brace Questionnaire (BrQ).The TAPS is a tool to evaluate subjective impression of trunk deformity, which includes 3 sets of figures that depict the trunk, from 3 viewpoints: looking toward the back, looking toward the head with the patient bending over, and looking toward the front. BSSQ is the questionnaire that estimates the stress scoliosis patients have, whilst wearing their brace. The BrQ is an instrument for measuring quality of life of scoliotic adolescents, who are being treated conservatively, with wearing of a corrective brace. The analysis considered the type of treatment, curve location, correlation of the total scores with age, Cobb angle and Bunnell rotation angle. Results The age was 14.1 ± 1.7 years. Cobb angle was 33.2 ± 9.5 degrees. The TAPS median for the total score was 4. Adolescents revealed higher score with BSSQ Deformity (median = 14) comparing to BSSQ Brace (median = 11). The mean score for BrQ was 76.6 ± 12.1.

Background The height of patients with idiopathic scoliosis (IS) is diminished due to the curvature of the spine. Several clinical parameters (BMI, vital capacity, others) are dependent on the patient’s height [1,2]. We developed a formula to calculate the corrected length of the spine in patients with IS, based on the presumption that scoliotic curve may be considered a part of a circle. Aim The aim of the study was to calculate the corrected length of the spine using our own formula, and compare it with the length directly measured on radiographs. Methods On the AP long film standing radiographs of 40 consecutive patients, undergoing surgery for IS, the Cobb angle (a) and the direct distance (h) between the upper end vertebra and the lower end vertebra (centroid of vertebral body) were measured. The length of the spinal curvature (c) was calculated in the computer program using the formula: c=ah/2sin a /2 For each patient the calculated length was compared to the length of the curvature measured on the radiograph. Shapiro-Wilk W test, t-Student’s test, and Pearson’s linear correlation were used. Results There was no statistically significant difference between the length of the scoliotic curve measured on radiograph and the length calculated with software (p=0.54). A strong correlation between these two parameters was found, Pearson linear correlation coefficient 0.98. Conclusions The method of correcting the spine length according to the Cobb angle seems to be simple and accurate. It needs only one additional parameter measured on the radiograph – the distance between the two end vertebrae. However, it concerns only the frontal plane. The software may be used on personal computers as well as on mobile phones, and thus help in everyday clinical practice.

BackgroundSpinal deformities and postural disorders can beassessed by evaluation of trunk surface deformity.Usually, the back shape is assessed. However, the ante-rior trunk can also develop deformity, which is observedby the patient more easily than the back surface.Aim of the studyTo introduce a new parameter, Anterior Trunk Symme-try Index (ATSI), for anterior trunk deformityassessment.MethodsSeventy primary school children, free of idiopathic scolio-sis, both sexes, aged 6-7 years, mean 6.9 ± 0.3 years wereexamined with digital photography of their trunk, takenfrom the front in standardized conditions. The anatomi-cal landmarks were: sternal notch, acromions, axillafolds, waist lines, and umbilicus. ATSI was defined as thesum of six indices: three frontal plane asymmetry indices(one for sternal notch, axilla folds and waist lines, respec-tively) and three height diffe rence indices, (one for acro-mions, axilla folds, and waist lines, respectively). Thesoftware was developed for semi-automatic calculation ofATSI, after the anatomical points are indicated on a digi-tal photo by the observer. The intra-observer error wascalculated by the first author, by measuring four timesthe pictures of 20 children, in the interval of at least oneday. The inter-observer error was calculated by one sur-geon, and three experienced physiotherapists, by measur-ing the pictures of 20 children. The normal value limitwas calculated as mean ± 3SD.ResultsThe assessment of the ATSI on digital photography tookaround 1 minute. The mean ATSI value for 70 childrenwas 22.6 ± 10.8. The intra-observer error was 1.23. Theinter-observer error for the four observers was 3.08. Thenormal value limit was 32.3.ConclusionThis new surface parameter can be easily calculated onregular digital photographs of the anterior trunk. Bothintra- and inter-observer e rrors are small, indicatingpossible reliability of ATSI for the assessment of ante-rior trunk asymmetry in children. Further studies areneeded to assess the clinica l usefulness of the ATSIparameter.

Methods We have evaluated available English language articles from the past ten years (2001-2011). Initial search was performed through PubMed, Medline, and Google Scholar with key words such as: idiopathic scoliosis, gene, genetic, SNP, association studies. As a result, more than 700 papers were obtained. Research method of each study was assessed. We included only genetic association studies or genome wide association studies. We ascertained 26 studies available for further analysis.

Background Clinical examination with the use of scoliometer is a basic method for scoliosis detection in school screening programs. Surface topography (ST) enables three-dimensional back assessment, however it has not been adopted for the purpose of scoliosis screening yet. The purpose of this study was to assess the usefulness of ST for scoliosis screening. Methods 996 girls aged 9 to 13 years were examined, with both scoliometer and surface topography. The Surface Trunk Rotation (STR) was introduced and defined as a parameter allowing comparison with scoliometer Angle of Trunk Rotation taken as reference. Results Intra-observer error for STR parameter was 1.9°, inter-observer error was 0.8°. Sensitivity and specificity of ST were not satisfactory, the screening cut-off value of the surface topography parameter could not be established. Conclusions The study did not reveal advantage of ST as a scoliosis screening method in comparison to clinical examination with the use of the scoliometer.

Results 558 abstracts were identified, 51 full texts were obtained and 18 were analyzed. The genes polymorphisms with the evidence of association to occurrence or progression of IS were identified. Both the papers confirming or denying genetic background of IS were found. The genes presenting polymorphisms susceptible to be related to IS were as follows: estrogen receptors (ER), melatonin receptors (MTNR), matrilin (MATNI), chromodomain helicase DNA-binding protein (CHD7), interleukin-6 (IL-6), metalloproteinases (MMP-3), g1-syntrophin (SNTG1), aggrecan, tryptophan hydroxylase 1 (TPH1), arylalkylamine N-acetyltransferase (AANAT), growth hormone receptor (GHR), collagen and elastic fibers genes. Up to now seven of the above mentioned could be excluded while others are subject of further investigation. Conclusion There is still insufficient data about the genetic origin and development of IS. The amount and quality of the existing publications increases, suggesting possible discovery of genetic background and understanding of molecular course of IS.

Case report A 15-year-old girl having right thoracic scoliosis with documented progression of 100 Cobb degrees within 2 years is presented. Medical history: Until the age of thirteen the girl developed normally, then the parents noted trunk asymmetry. The girl was radiographed and right thoracic scoliosis was diagnosed. Cobb angle was 20 degrees (Th7-L2), Risser sign 1. No signs of congenital curvature. The girl was advised to wear a brace and perform exercises but did not do. First admitted to our department at the age of 15. Menarche has not appeared. On examination severe trunk imbalance, right rib hump 30 degrees of Bunnell. The curve was stiff, left rib arch touching the iliac crest. There were 4 cafe-au-lait spots, but diagnose of neurofibromatosis was ruled out with genetic exam. X-ray revealed right thoracic scoliosis 125 degrees of Cobb (Th7-L2), Risser sign 3. Supine bending X-ray revealed correction to 100 degrees (20%). Vital capacity was 40%. MRI exam did not show central nervous system disturbances. The patient was qualified to staged operative treatment of scoliosis combined with regular respiratory exercises and had already the first surgery resulting in correction to 67 degrees. Conclusions Medical history, clinical examination, radiography and MRI did not reveal any data to predict unusual course of scoliosis.

Materials and methods The study group comprised 39 children (17 girls, 22 boys), aged 7.0 to 11.0, mean 8.8 ± 1.1, having the “twisted pelvis” defined as a combination of nutation of one iliac bone and contra-nutation of another iliac bone as well as an apparent shortness of one leg in supine position. The control group comprised 39 children (22 girls, 17 boys), aged 7.0 to 11.0, mean 9.0 ± 1.4. The groups were matched for age, height, weight and BMI. Digital photos of the trunk in standing habitual posture were performed twice: before and after manual therapy comprising single manipulation of the sacroiliac joints according to Ackermann. The control group had no therapy but just a 5-minute rest in sitting position between the two photos.

Material and methods 126 primary school pupils, 60 girls and 66 boys, aged 7.0 to 13.0 years (9.1±1.6), were examined in standing position twice: in a relaxed posture and in actively corrected posture (after the “straight the back” command). Children were not instructed what corrected posture means. Spinous processes of C7, Th6, Th12 and S1 were clinically identified. Sagittal clinical angles: C7-Th6 (upper thoracic kyphosis, UTK), Th6-Th12 (lower thoracic kyphosis, LTK), Th12-S1 (lumbar lordosis, LL) and sacral inclination (SI) were measured with Rippstein plurimeter [1-4]. Significance of difference of the means was checked with paired t-test.

Results The VO2 max value (l/min) and the PWC170 index were significantly lower in girls with moderate IS compared to control group. No difference was found between mild IS and controls. No influence of the number of curves and the length of scoliosis on VO2 max (l/min; ml/kg/min) and the absolute capacity value (W) was found. A significantly lower value of the PWC 170(W/kg) index was observed in girls with double scoliosis and girls having the curve over 9 vertebrae. Conclusions Girls with moderate IS presented lower VO2 max compared to controls. Physical capacity of mild IS was not significantly different from controls. Girls with double scoliosis and girls having the curve over 9 vertebrae had a significantly lower value of the PWC 170 (W/kg) index, moreover no significant effects were found for VO2 max and PWC 170 (W).

Background Progressive idiopathic scoliosis can negatively influence the development and functioning of 2-3% of adolescents, with health consequences and economic costs, placing the disease in the centre of interest of the developmental medicine. The aim of this study was to evaluate the effectiveness of Chêneau brace in the management of idiopathic scoliosis. Methods A prospective observational study according to SOSORT and SRS recommendations comprised 79 patients (58 girls and 21 boys) with progressive idiopathic scoliosis, treated with Chêneau brace and physiotherapy, with initial Cobb angle between 20 and 45 degrees, no previous brace treatment, Risser 4 or more at the final evaluation and minimum one year follow-up after weaning the brace. Achieving 50° of Cobb angle was considered surgical recommendation. Results At follow-up 20 patients (25.3%) improved, 18 patients (22.8%) were stable, 31 patients (39.2%) progressed below 50 degrees and 10 patients (12.7%) progressed beyond 50 degrees (2 of these 10 patients progressed beyond 60 degrees). Progression concerned the younger and less skeletally mature patients. Conclusion Conservative treatment with Chêneau orthosis and physiotherapy was effective in halting scoliosis progression in 48.1% of patients. The results of this study suggest that bracing is effective in reducing the incidence of surgery in comparison with natural history.