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We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (TRPM3) missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy (CP) using phenotype-driven prioritization analysis of whole-genome sequencing data with Exomiser. The variant is localized in the functionally important ion transport domain of the TRPM3 protein and predicted to impact the protein structure. Our report adds TRPM3 to the list of Mendelian disease-associated genes that can be associated with CP and provides further evidence for the pathogenicity of the variant p.(Asn1126Asp).

Objective Treating patients with large thoracic scoliosis (between 70° and 100°) poses technical challenges, particularly with traditional correction techniques (TCT). To address this, we developed a novel deformity correction manipulation system (DCMS) aimed at reducing surgical complexity and trauma. This study aims to assess the safety and effectiveness of DCMS in treating large thoracic scoliosis. Methods From January 2016 to June 2021, 76 patients with large thoracic scoliosis were included in this retrospective study. The patients were divided into two groups: DCMS (n = 34) and TCT (n = 42). Basic patient data including age at surgery, sex, etiology, Risser sign, flexibility of the main thoracic curve, instrumented levels, number of screws, duration of hospital stay, and follow‐up time were collected and analyzed. Radiographic and clinical outcomes, as measured by various radiographic parameters and Scoliosis Research Society‐30 (SRS‐30) scores, were retrospectively analyzed and compared between the two groups. Adverse events were also documented. Statistical analyses were performed using two‐tailed independent t‐tests, chi‐square tests, and Fisher's exact test. Results The DCMS group exhibited significantly shorter operative times, reduced blood loss, and shorter hospital stays compared to the TCT group. However, there were no significant differences between the two groups in terms of age at surgery, sex, etiology, Risser sign, flexibility of the main curve, instrumented levels, number of screws, and follow‐up time. While preoperative major curves were statistically similar between the two groups, the DCMS group achieved a superior correction rate compared to the TCT group (74.2% ± 8.8% vs 68.1% ± 10.5%). No significant differences were observed in other radiographic parameters, SRS‐30 scores, or the incidence of adverse events. Conclusion The application of DCMS resulted in shorter operative times, reduced blood loss, shorter hospital stays, and greater curve correction compared to TCT. DCMS proves to be a safe and effective technique for treating large thoracic curves.

Objective: Treating patients with large thoracic scoliosis (between 70° and 100°) poses technical challenges, particularly with traditional correction techniques (TCT). To address this, we developed a novel deformity correction manipulation system (DCMS) aimed at reducing surgical complexity and trauma. This study aims to assess the safety and effectiveness of DCMS in treating large thoracic scoliosis. Methods: From January 2016 to June 2021, 76 patients with large thoracic scoliosis were included in this retrospective study. The patients were divided into two groups: DCMS (n = 34) and TCT (n = 42). Basic patient data including age at surgery, sex, etiology, Risser sign, flexibility of the main thoracic curve, instrumented levels, number of screws, duration of hospital stay, and follow‐up time were collected and analyzed. Radiographic and clinical outcomes, as measured by various radiographic parameters and Scoliosis Research Society‐30 (SRS‐30) scores, were retrospectively analyzed and compared between the two groups. Adverse events were also documented. Statistical analyses were performed using two‐tailed independent t‐tests, chi‐square tests, and Fisher's exact test. Results: The DCMS group exhibited significantly shorter operative times, reduced blood loss, and shorter hospital stays compared to the TCT group. However, there were no significant differences between the two groups in terms of age at surgery, sex, etiology, Risser sign, flexibility of the main curve, instrumented levels, number of screws, and follow‐up time. While preoperative major curves were statistically similar between the two groups, the DCMS group achieved a superior correction rate compared to the TCT group (74.2% ± 8.8% vs 68.1% ± 10.5%). No significant differences were observed in other radiographic parameters, SRS‐30 scores, or the incidence of adverse events. Conclusion: The application of DCMS resulted in shorter operative times, reduced blood loss, shorter hospital stays, and greater curve correction compared to TCT. DCMS proves to be a safe and effective technique for treating large thoracic curves. [ABSTRACT FROM AUTHOR]

The purpose of the work was to study the effect of targeted physical therapy in scoliotic disease on changes in carbohydrate metabolism in patients with metabolic syndrome. The dependence of visceral fat and glycated hemoglobin levels on the C-shaped right-sided thoracic scoliosis as stimulated through comprehensive physical therapy is being investigated. A hypodynamic lifestyle and a forced posture when sitting during working hours causes a change in the spinal rotation which deform the thorax and affect functioning of the organs. Materials and Methods: the study involved 36 patients split into two groups. The level of glycated hemoglobin was higher than 5.93% in women and 6.05% in men. The same physical and diet therapy was prescribed for the two groups. However, the main study group combined targeted exercises and kinesio-taping to reduce the scoliosis. Results: based on the distribution of χ2 the classical method of processing statistical data was applied to the study, which is well applicable for a small amount of data. The statistical data showed a linear dependence between the Cobb angle and glycosylated hemoglobin level which was especially pronounced in women prior to physical therapy. The correlation between glycosylated hemoglobin level and the Cobb angle declined in both men and women with an improvement in posture. Conclusions: with a decrease in the Cobb angle, the correlation between it and the level of glycosylated hemoglobin decreased in both men and women, which confirms the hypothesis that carbohydrate metabolism is associated with changes in the pancreas that occur due to rotational changes in the spine. By studying metabolic syndrome, even in small groups of patients, general practitioners will be able to expand the list of treatment recommendations.

Study Design: Retrospective case series. Objective: To examine the incidence and risk factors for postoperative pain following anterior vertebral body tethering (AVBT) for adolescent idiopathic scoliosis (AIS). Summary of Background Data: Up to 78% of patients with AIS report preoperative pain; it is the greatest patient concern surrounding surgery. Pain significantly decreases following posterior spinal fusion, but pain following AVBT is poorly understood. Materials and Methods: We retrospectively reviewed 279 patients with a two-year follow-up after AVBT for AIS. We collected demographic, radiographic, and clinical data pertinent to postoperative pain at each time interval of preoperative and postoperative visits (6 wk, 6 mo, 1 y, and annually thereafter). Results: Within our cohort, 68.1% of patients reported preoperative pain. Older age (P= 0.014) and greater proximal thoracic (P=0.013) and main thoracic (P= 0.002) coronal curve magnitudes were associated with preoperative pain. Pain at any time point > 6 weeks postoperatively was reported in 41.6% of patients; it was associated with the female sex (P= 0.032), need for revision surgery (P= 0.019), and greater lateral displacement of the apical lumbar vertebrae (P= 0.028). The association between preoperative and postoperative pain trended toward significance (P=0.07). At 6 months postoperatively, 91.8% had pain resolution; the same number remained pain-free at the time of last follow-up. The presence of a postoperative complication was associated with new-onset postoperative pain that resolved (P=0.009). Only 8.2% had persistent pain, although no risk factors were found to be associated with persistent pain. Conclusion: In our cohort of 279 patients with a minimum 2-year follow-up after AVBT, 68.1% reported preoperative pain. Nearly 42% reported postoperative pain at any time point, but only 8.2% had persistent pain. Postoperative pain after AVBT was associated with female sex, revision surgery, and Lenke lumbar modifier. AVBT is associated with a significant reduction in pain, and few patients report long-term postoperative pain. [ABSTRACT FROM AUTHOR]

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Purpose: Pedicle screw (PS) placement in thoracic scoliotic deformities can be challenging due to altered vertebral anatomy; malposition can result in severe functional disability or inferior construct stability. Three-dimensional (3D) printed patient-specific guides (PSGs) have been recently used to supplement other PS placement techniques. We conducted a single-center, retrospective observational study to assess the accuracy of PS placement using PSGs in a consecutive case series of pediatric and adult patients with thoracic scoliosis. Methods: We analyzed the data of patients with thoracic scoliosis who underwent PS placement using 3D-printed PSG as a vertebral cannulation aid between June 2013 and July 2018. PS positions were determined via Gertzbein–Robbins (GR) and Heary classifications on computed tomography images. We determined the concordance of actual and preoperatively planned PS positions and defined the technique learning curve using a receiver-operating characteristic (ROC) curve. Results: We performed 362 thoracic PS placement procedures in 39 consecutive patients. We classified 352 (97.2%), 2 (0.6%), and 8 (2.2%) screws as GR grades 0 (optimal placement), I, and II, respectively. The average instrumented PS entry point offsets on the X- and Y-axes were both 0.8 mm, and the average differences in trajectory between the planned and the actual screw placements on the oblique sagittal and oblique transverse planes were 2.0° and 2.4°, respectively. The learning process was ongoing until the first 12 PSs were placed. Conclusions: The accuracy of PS placement using patient-specific 3D templates in our case series exceeds the accuracies of established thoracic PS placement techniques. [ABSTRACT FROM AUTHOR]

Background and objectives: To analyze demographic and clinical features of pattern strabismus patients and assess the relationship among these clinical variables and risk factors. Materials and Methods: Medical records of pattern strabismus patients who had undergone strabismus surgery at our center between 2014 and 2019 were retrospectively reviewed. Data collected included gender, age at onset, age at surgery, refraction, Cobb angle, pre- and post-operative deviations in the primary position, up- and downgaze, angle of ocular torsion, type/amount of pattern, grade of oblique muscle function and presence/grade of binocular function. To verify the clinical significance of the Cobb angle, 666 patients who had undergone surgery within one week after ocular trauma between 2015 and 2021 were enrolled as controls. Results: Of the 8738 patients with horizontal strabismus, 905 (507 males and 398 females) had pattern strabismus, accounting for 10.36%. Among these 905 patients, 313 showed an A-pattern and 592 showed a V-pattern. The predominant subtype was V-exotropia, followed by A-exotropia, V-esotropia and A-esotropia. Over half of these patients (54.6%) manifested an A- or V-pattern in childhood. The overall mean ± SD Cobb angle was 5.03 ± 4.06° and the prevalence of thoracic scoliosis was 12.4%, both of which were higher than that observed in normal controls (4.26 ± 3.36° and 7.8%). Within A-pattern patients, 80.2% had SOOA and 81.5% an intorsion, while in V-pattern patients, 81.5% had IOOA and 73.4% an extorsion. Patients with binocular function showed decreases in all of these percent values. Only 126 (13.9%) had binocular function, while 11.8% of A-pattern and 15.1% of V-pattern patients still maintained binocular function. Pre-operative horizontal deviation was negatively correlated with binocular function (r = −0.223, p < 0.0001), while the grade of oblique muscle overaction was positively correlated with the amount of pattern (r = 0.768, p < 0.0001) and ocular torsion (r = 0.794, p < 0.0001). There were no significant correlations between the Cobb angle and any of the other clinical variables. There were 724 patients (80.0%) who had received an oblique muscle procedure and 181 (20.0%) who received horizontal rectus muscle surgery. The most commonly used procedure consisted of horizontal rectus surgery plus inferior oblique myectomy (n = 293, 32.4%), followed by isolated horizontal rectus surgery (n = 122, 13.4%). Reductions of pattern were 14.67 ± 6.93 PD in response to horizontal rectus surgery and 18.26 ± 7.49 PD following oblique muscle surgery. Post-operative deviations were less in V- versus A-pattern strabismus. Post-operative binocular function was obtained in 276 of these patients (30.5%), which represented a 16.6% increase over that of pre-operative levels. The number of patients with binocular function in V-pattern strabismus was greater than that of A-pattern strabismus (p = 0.048). Conclusions: Of patients receiving horizontal strabismus surgery, 10.36% showed pattern strabismus. In these patients, 54.6% manifested an A- or V-pattern in childhood, and V-exotropia was the most frequent subtype. Pattern strabismus patients showed a high risk for developing scoliosis. Cyclovertical muscle surgery was performed in 724 of these patients (80.0%), and horizontal rectus surgery was effective in correcting relatively small levels of patterns. Binocular function represented an important factor as being involved with affecting the occurrence and development of pattern strabismus. [ABSTRACT FROM AUTHOR]

Study Design: Single-center retrospective review of outcomes among three surgical techniques in the treatment of thoracic idiopathic scoliosis (T-AIS) with a follow-up of at least 5 years.Objective: To investigate how outcomes compare in video-assisted anterior thoracic instrumentation (VATS), all hooks/hook-pedicle screw hybrid instrumentation (HHF), and all pedicle screw instrumentation (PSF) techniques for T-AIS.Summary Of Background Data: Studies comparing outcomes for anterior versus posterior fusion for T-AIS are few and with short follow-up.Methods: Three groups of patients with T-AIS who underwent thoracic fusion were included in this study: 98 patients with mean curve of 49.0° ± 9.5° underwent VATS (Group 1); 44 patients with mean curve of 51.1° ± 7.4° underwent HHF (Group 2); and 47 patients with mean curve of 47.6° ± 9.9° underwent PSF (Group 3). Radiological outcomes were compared at preoperative, and up to 5 years. Surgical outcomes were noted until latest follow-up.Results: Group 1 had less blood loss, less fusion levels, longer surgical time, and longer hospital stay compared with the other groups (P < 0.01). Groups 1 and 3 were comparable in all time periods with 78.8% and 78.2% immediate curve correction, and 72.9% and 72.1% at 5 years, respectively. Group 2 had lower correction in all time periods (P < 0.0001). Thoracic kyphosis and lumbar lordosis decreased in Group 3, but improved in both Groups 1 and 2 (P < 0.0001). Group 1 had more respiratory complications. The posterior groups had more deep wound infections. Two patients in Group 1 and one patient in Group 2 required revision surgery for implant-related complications. Reoperations for deep wound infections were noted only in the posterior groups.Conclusion: This is the first report comparing 5 year outcomes between anterior and posterior surgery for T-AIS. All three surgical methods resulted in significant and durable scoliosis correction; however, curve correction using HHF was inferior to both VATS and PSF with the latter two groups achieving similar coronal correction. However, VATS involved fewer segments, kyphosis improvement, and no deep wound infection, whereas PSF has less surgical time, shorter hospital stays, and no revision surgery from implant-related complications.Level of Evidence: 3. [ABSTRACT FROM AUTHOR]

Adult scoliosis is a sideways curvature of the spine causing bilateral lower back pain and paresthesia of the lower limbs. Conservative treatment for scoliosis is primarily performed for youth, but scoliosis can be deteriorating as the patient ages. Rare, severe scoliosis with a Cobb angle over 40 degrees with respiratory difficulties leaves open surgery as the only option. However, surgical treatments often suffer from various complications. This case report presents an elderly woman with severe scoliosis at a Cobb angle of 172°. The patient showed no respiratory difficulties. As the patient refused to receive surgical treatment, conservative care was performed. A series of treatments showed positive outcomes to improve the quality of the patient's life. Extremely severe scoliosis with a 172° Cobb angle has never been reported in the geriatric population. Our case supports the efficiency of conservative management for such severe scoliosis. [ABSTRACT FROM AUTHOR]

Abstract Background Patients with Marfan syndrome commonly require spinal deformity surgery. The purpose of this case report is to present a rare thoracotomy complication. We present the management of such a patient. Case summary In a known case of Marfan syndrome, an 18-year-old Persian man was admitted to our hospital with scoliosis. The patient underwent radiological examinations, and thoracic scoliosis of 70° was diagnosed. A right thoracotomy for anterior spinal fusion from the sixth rib and posterior spinal fusion were performed successfully. Two months later, he was readmitted because of winging of the right scapula due to serratus anterior palsy. Electromyography and nerve conduction velocity confirmed long thoracic nerve injury. Conservative treatment was provided. Ultimately, the patient recovered completely in the last follow-up visit 6 months after the surgery. Discussion This is the first report of ipsilateral winged scapula after thoracotomy. Attention needs to be paid to surgical techniques in patients with Marfan syndrome.

Background and objectives: To analyze demographic and clinical features of pattern strabismus patients and assess the relationship among these clinical variables and risk factors. Materials and Methods: Medical records of pattern strabismus patients who had undergone strabismus surgery at our center between 2014 and 2019 were retrospectively reviewed. Data collected included gender, age at onset, age at surgery, refraction, Cobb angle, pre- and post-operative deviations in the primary position, up- and downgaze, angle of ocular torsion, type/amount of pattern, grade of oblique muscle function and presence/grade of binocular function. To verify the clinical significance of the Cobb angle, 666 patients who had undergone surgery within one week after ocular trauma between 2015 and 2021 were enrolled as controls. Results: Of the 8738 patients with horizontal strabismus, 905 (507 males and 398 females) had pattern strabismus, accounting for 10.36%. Among these 905 patients, 313 showed an A-pattern and 592 showed a V-pattern. The predominant subtype was V-exotropia, followed by A-exotropia, V-esotropia and A-esotropia. Over half of these patients (54.6%) manifested an A- or V-pattern in childhood. The overall mean ± SD Cobb angle was 5.03 ± 4.06° and the prevalence of thoracic scoliosis was 12.4%, both of which were higher than that observed in normal controls (4.26 ± 3.36° and 7.8%). Within A-pattern patients, 80.2% had SOOA and 81.5% an intorsion, while in V-pattern patients, 81.5% had IOOA and 73.4% an extorsion. Patients with binocular function showed decreases in all of these percent values. Only 126 (13.9%) had binocular function, while 11.8% of A-pattern and 15.1% of V-pattern patients still maintained binocular function. Pre-operative horizontal deviation was negatively correlated with binocular function (r = −0.223, p < 0.0001), while the grade of oblique muscle overaction was positively correlated with the amount of pattern (r = 0.768, p < 0.0001) and ocular torsion (r = 0.794, p < 0.0001). There were no significant correlations between the Cobb angle and any of the other clinical variables. There were 724 patients (80.0%) who had received an oblique muscle procedure and 181 (20.0%) who received horizontal rectus muscle surgery. The most commonly used procedure consisted of horizontal rectus surgery plus inferior oblique myectomy (n = 293, 32.4%), followed by isolated horizontal rectus surgery (n = 122, 13.4%). Reductions of pattern were 14.67 ± 6.93 PD in response to horizontal rectus surgery and 18.26 ± 7.49 PD following oblique muscle surgery. Post-operative deviations were less in V- versus A-pattern strabismus. Post-operative binocular function was obtained in 276 of these patients (30.5%), which represented a 16.6% increase over that of pre-operative levels. The number of patients with binocular function in V-pattern strabismus was greater than that of A-pattern strabismus (p = 0.048). Conclusions: Of patients receiving horizontal strabismus surgery, 10.36% showed pattern strabismus. In these patients, 54.6% manifested an A- or V-pattern in childhood, and V-exotropia was the most frequent subtype. Pattern strabismus patients showed a high risk for developing scoliosis. Cyclovertical muscle surgery was performed in 724 of these patients (80.0%), and horizontal rectus surgery was effective in correcting relatively small levels of patterns. Binocular function represented an important factor as being involved with affecting the occurrence and development of pattern strabismus.

Purpose: No study so far has paid attention to strabismus-related spinal imbalance. This study aimed to determine the epidemiology of thoracic scoliosis in children and adolescents with strabismus and investigate the association of two diseases.Methods and Design: A cross-sectional study. Study group consists of 1935 consecutive candidates for strabismus surgery (4-18 years); Control group consists of the age- and sex-matched patients with respiratory diseases. All subjects underwent a screening program based on chest plain radiographs using the Cobb method. Their demographic information, clinical variables and results of Cobb angle were recorded and analyzed.Results: A significantly higher prevalence of thoracic scoliosis (289/1935, 14.94% versus 58/1935, 3.00%) was found in study group compared with control group. Among strabismic patients, the coronal thoracic scoliosis curve mainly distributed in right and in main thoracic (198/289) and in the curves 10°-19° (224/289); Age range 7-9 years (103/1935), female (179/1935) and concomitant exotropia patients (159/851) were more likely to have thoracic scoliosis. According to the logistic regression, thoracic scoliosis had no significant association with age, BMI, duration of illness and onset age (p > 0.05). However, gender, BCVA, type of strabismus and degree of strabismus showed a significant relationship with the prevalence of thoracic scoliosis (p < 0.05).Conclusions: With a pooled prevalence of 14.94%, strabismus patients showed a great higher risk of developing thoracic scoliosis. Screening for scoliosis in strabismus patients can be helpful to discover a high prevalence of potential coronal scoliosis. More attention should be paid to ophthalmological problems in patients with scoliosis. These slides can be retrieved under Electronic Supplementary Material. [ABSTRACT FROM AUTHOR]

School scoliosis screening programs (SSSPs) are widely used for reporting the prevalence and improving the awareness of scoliosis. Thus, scoliosis could be prevented and/or treated in a timely manner. However, mild scoliosis (10°–20°) could be missed in SSSPs. Previously obtained plain chest radiographs could be used as an adjunct to SSSPs to detect the exact prevalence of scoliosis. In this study, we aimed to detect the prevalence of thoracic scoliosis in adolescents in Turkey using posteroanterior chest radiographs. We conducted a cross-sectional radiologic study evaluating plain chest radiographs in adolescents who visited the emergency department or outpatient clinics at a community-based hospital. We also reviewed the literature regarding scoliosis screening in adolescents using the PubMed/MEDLINE search engine. We included 1065 adolescents. Thoracic scoliosis was detected on plain posteroanterior chest radiographs in 10.4% of the adolescents. The prevalence of thoracic scoliosis was significantly larger in females compared with males (12.3% vs. 8.6%; P = 0.047). We retrieved 140 articles regarding scoliosis screening in adolescents from the literature. Each continent had different scoliosis prevalence (according to Cobb angle ≥10° verified on a radiograph). SSSPs help detection of the prevalence of scoliosis and the factors associated with scoliosis in adolescents. However, patients with small-angle curves could be missed in SSSPs. Our results showed that plain posteroanterior chest radiographs could be used as an adjunct to SSSPs to accurately detect prevalence of scoliosis in adolescents. [ABSTRACT FROM AUTHOR]

To analyze the effects of direct vertebral rotation (DVR) on radiologic outcomes in the treatment of thoracic adolescent idiopathic scoliosis after selective thoracic fusion with pedicle screw instrumentation. Adolescent idiopathic scoliosis patients with single thoracic curves (n = 110) treated by selective thoracic fusion with a minimum of 2 years of follow-up were retrospectively analyzed. The patients were separated into 2 groups: non-DVR (n = 63) and DVR (n = 47). There was a significant difference in fused segments between the non-DVR and DVR groups (P < 0.001). There was also a significant difference in main thoracic curve postoperatively (P = 0.001) and at the last follow-up (P = 0.006) between the non-DVR and DVR groups. However, there was no significant difference in proximal thoracic and lumbar curves postoperatively (proximal thoracic curve: P = 0.186; lumbar curve: P = 0.155) and at the last follow-up (proximal thoracic curve: P = 0.250; lumbar curve: P = 0.060) between the 2 groups. Significant improvements in the lowest instrumented vertebra tilt and disc angle were noted but then slight deteriorations in such were observed during the follow-up period in the non-DVR group. The prevalence of unsatisfactory results was 20.6% (13 of 63) in the non-DVR group and 19.1% (9 of 47) in the DVR group, with no significant difference (P = 0.522). For correcting single thoracic adolescent idiopathic scoliosis by selective thoracic fusion with pedicle screw instrumentation, the addition of DVR to the surgical procedure showed comparable radiologic outcomes compared with non-DVR procedures. [ABSTRACT FROM AUTHOR]

Background: Patients with Marfan syndrome commonly require spinal deformity surgery. The purpose of this case report is to present a rare thoracotomy complication. We present the management of such a patient. In a known case of Marfan syndrome, an 18-year-old Persian man was admitted to our hospital with scoliosis. The patient underwent radiological examinations, and thoracic scoliosis of 70° was diagnosed. A right thoracotomy for anterior spinal fusion from the sixth rib and posterior spinal fusion were performed successfully. Two months later, he was readmitted because of winging of the right scapula due to serratus anterior palsy. Electromyography and nerve conduction velocity confirmed long thoracic nerve injury. Conservative treatment was provided. Ultimately, the patient recovered completely in the last follow-up visit 6 months after the surgery.Discussion: This is the first report of ipsilateral winged scapula after thoracotomy. Attention needs to be paid to surgical techniques in patients with Marfan syndrome. [ABSTRACT FROM AUTHOR]

We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 ( TRPM3 ) missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy (CP) using phenotype-driven prioritization analysis of whole-genome sequencing data with Exomiser. The variant is localized in the functionally important ion transport domain of the TRPM3 protein and predicted to impact the protein structure. Our report adds TRPM3 to the list of Mendelian disease-associated genes that can be associated with CP and provides further evidence for the pathogenicity of the variant p.(Asn1126Asp)., (© 2023 Sundaramurthi et al.; Published by Cold Spring Harbor Laboratory Press.)

Study Design: A retrospective, long-term follow-up study.Objective: We investigated the natural course of compensatory lumbar curves in patients with primary thoracic adolescent idiopathic scoliosis (AIS).Summary Of Background Data: The natural course of compensatory lumbar curves in primary thoracic AIS remains unknown.Methods: Inclusion criteria were right-sided primary thoracic AIS ≥30° with a Lenke lumbar modifier of A or B at skeletal maturity and ≥30 years of age at the time of the survey. Fifty-one patients (mean age, 40.2 yr) returned for a follow-up evaluation (follow-up rate, 34.2%). Patients were classified into three groups based on the lumbar modifier (A or B) and direction of L4 tilt [right (R) or left (L)] (AR, n.11; AL, n.18; and B, n.22). At the time of the survey, 42 patients underwent radiological examinations and 37 underwent lumbar magnetic resonance imaging. Quality of life questionnaires were completed in all patients and in a 1:1 matched control group (no history of scoliosis).Results: The thoracic curves had significantly progressed in all patient groups, while the compensatory lumbar curve progressed only in the B group. The C7 translation and L4 tilt shifted to the right in the AR and AL groups, but did not change in the B group. As a result, the L4 tilt (median, 11°) and C7 translation (18.6 mm) tended to be the greatest in the AR group. The incidences of Modic changes at L4/5 discs and ≥3 cm on the visual analogue scale for low back pain were significantly higher in the AR group (77.8% and 54.5%, respectively) compared with that in the other groups.Conclusion: The natural course of compensatory lumbar curves is dependent on the lumbar modifier and direction of L4 tilt. Adolescent patients with right-sided primary thoracic AIS (≥30°) with L4 tilted to the right should be considered for periodic follow-ups into adulthood.Level Of Evidence: 4. [ABSTRACT FROM AUTHOR]

Objectives: The objectives of this study were to evaluate the repeatability and reproducibility of a method for measuring freehand rod bending and to analyze the relationship between the rod's bend and the resulting sagittal correction., Materials and Methods: All the children who underwent correction by posterior translation using pedicle screws at all levels were included prospectively in 2018 and 2019. The rod's sagittal parameters were measured retrospectively by three independent surgeons on two separate occasions using the same protocol. After the rods were bent but before they were inserted, the surgeon traced the contours of the rods on a sheet of paper that was later scanned and analyzed semiautomatically. The spinal parameters were calculated based on biplanar radiographs taken preoperatively, postoperatively and at the final follow-up visit. Patients who had less than 10° thoracic kyphosis (T5-T12) made up the "Lenke N-" subgroup., Results: Thirty patients were included (14 of whom were Lenke N-) who had a Cobb angle of 59.2±11.3° preoperatively and 13.3±8.4° postoperatively (p<0.00001). The inter- and intrarater ICC for the rod measurements were>0.9 (excellent). The mean kyphosis of the concave rod was 48.4±5.7° (38.3-60.9°). The mean change in T5-T12 kyphosis was 9.7±10.8° (-14.3-30.8°) (p<0.0001) in the entire population, while it was 17.7±7.1° (5.5-30.8°) (p<0.0001) in the Lenke N- subgroup. The change in thoracic kyphosis was positively correlated with the kyphosis of the concave rod (rho=0.52; p=0.003)., Conclusion: This study found excellent reproducibility and repeatability of measuring freehand rod bending. The kyphosis applied to the concave rod is positively correlated to the change in the resulting kyphosis and made it possible to restore satisfactory thoracic kyphosis., Level of Evidence: III., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

Disclosed problems prevent incorrect posture in children with exercise in the water therapeutic swimming and Pilates. Developed and tested methodology which was aimed at restoring and improving spinal mobility impairments, respiratory system and retention of skill correct posture. Proved that when properly used kinesotherapy patients increased efficiency, activated natural systems to adapt, improve the state of the central and autonomic nervous system is stimulated by mental activity and improvement occurs.

Purpose: To investigate the prevalence of thoracic scoliosis and determine the effect of both age and gender on coronal curve magnitude among asymptomatic adults aged 25-64 years old, using standing posterior-anterior chest radiographs.Methods: This was a retrospective, cross-sectional study evaluating 500 randomly selected digital posterior-anterior chest radiographs taken at a single institution on an outpatient basis between January 2010 and December 2011. Males (n = 184) and females (n = 316) ranged in age from 25 to 64 years. Patients with symptoms of back pain; including a history of back pain, spinal instrumentation, or known pre-existing spinal disease were excluded. Radiographs were evaluated using Centricity PACS Web Diagnostic 2.1 system (General Electric Co. Fairfield, CT). Coronal Cobb angle measurements of the thoracic spine were quantified by the authors, with scoliosis defined as coronal curves greater than 10°. Curvatures were subdivided into groups: a control group with coronal curves less than 10°, curves measuring 10° to 19°, 20° to 29°, and greater than 30°. The effect of age and gender on curve magnitude was examined using Pearson correlation analysis and linear regression analysis.Results: There was a 13.4 % (67 patients) prevalence of thoracic scoliosis. The prevalence among asymptomatic males was 10.9 %, while the prevalence among asymptomatic females was 14.9 %. 11.6 % demonstrated a coronal curvature between 10° and 19° (58 patients), 1.6 % between 20° and 29° (8 patients), and 0.2 % greater than 30° (1 patient). Age and gender were not found to be significant independent predictors of curve severity.Conclusions: We found a 13.4 % prevalence of thoracic scoliosis among asymptomatic adults aged 25-64 years on routine outpatient chest radiographs. 11.6 % of patients demonstrated a coronal curvature between 10° and 19°. Unlike prior studies evaluating asymptomatic thoracic curves in elderly patients, age and gender did not significantly affect curve magnitude in our younger cohort. These data may provide a reference point to help clinicians counsel asymptomatic patients diagnosed with thoracic scoliosis on routine chest radiographs. [ABSTRACT FROM AUTHOR]

Purpose: The human standing position requires permanent reciprocal spino-pelvic adjustments to obtain a dynamic and economic posture. This study focuses on a hypokyphotic Lenke 1 adolescent idiopathic scoliosis (AIS) patients cohort and points out their particular lumbo-pelvic adaptive mechanisms to maintain a neutral sagittal balance.Methods: Preoperative retrospective analysis of prospectively collected data on a monocentric cohort of 455 AIS patients planned for corrective surgery. Radiological low-dose system coupled with a validated clinical routine software allowed to obtain data from eighty-four hypokyphotic [thoracic kyphosis (TK) <20°] Lenke 1 patients and were separately analyzed. Bilateral Student and one-way ANOVAs were conducted for statistical analysis.Results: Mean Cobb angle was 46.3° (±7.2), TK was 11° (±7.1), sagittal vertical axis (SVA) was -10.1 mm (±30.9), pelvic incidence (PI) was 55.7° (±12.9). Fifty percents of patients were posteriorly imbalanced. Among them, patients with a low PI used an anteversion of their pelvis [indicated by a high pelvic tilt (PT) angle] but were not able to increase their lumbar lordosis (LL) to minimize the posterior spinal shift.Conclusions: Hypokyphotic Lenke 1 AIS patients use lumbo-pelvic compensatory mechanisms to maintain their global balance with a poor effectiveness. Subjects with a low PI have a restricted range of LL adaptation. Attention should be paid during surgical planning not to overcorrect lordosis in the instrumented levels in case of non-selective fusion, that may induce posterior shift of the fusion mass and expose to junctional syndromes and poor functional outcomes in this particular patients. [ABSTRACT FROM AUTHOR]

Study Design. Cross-sectional study. Objective. To determine the prevalence of thoracic scoliosis in patients aged 50 years or older and to investigate the association of adult thoracic scoliosis with age, sex, and thoracic sagittal curve. Summary of Background Data. The prevalence of adult thoracic scoliosis has not been clearly determined. In addition, limited data are available on the correlation of adult thoracic scoliosis to age, sex, and thoracic kyphosis. Methods. We studied 760 patients aged 50 years or older (380 males and 380 females) who were evaluated using standing chest plain radiographs. The thoracic curvatures in the coronal and sagittal planes were measured using the Cobb method. Scoliosis was defined by the presence of a coronal curvature 10° or more. We performed a correlation analysis of the coronal curve with age and sagittal curve; in addition, a linear regression analysis was carried out to evaluate age, sex, and sagittal curve as independent predictors of the coronal Cobb angle of the thoracic spine. Results. The prevalence of thoracic scoliosis was 24.2% (184 cases); 160 patients (21.1%) had curves 10° or more but less than 20°; 20 patients (2.6%) had curves 20° or more but less than 30°; and 4 patients (0.5%) had curves 30° or more. Females exhibited a higher prevalence of scoliosis (28.9%) than did males (19.4%), P < 0.01. The older patients exhibited increased scoliosis, but no differences were observed in thoracic kyphosis with increasing scoliosis. Age and sex were independent predictors of the coronal Cobb angle; however, the sagittal angle was not. Conclusion. We found a 24.2% prevalence of thoracic scoliosis in patients 50 years or older; most curves were less than 20°. Thoracic scoliosis was more common in females and in older patients. [ABSTRACT FROM AUTHOR]

The objective of the study was to report a rare occurrence of dislocation and intrusion of two rib heads into the spinal canal at the convex apex of a post-traumatic thoracic scoliosis in an adult in the absence of any neurological impairment. A 47-year-old male presented with a slowly progressive, post-traumatic thoracic scoliosis and a mild aching sensation over the posterior chest wall. The lower limb neurology and bowel and bladder function were normal. There was no clinical evidence of neurofibromatosis. CT scans showed that the 8th and 9th ribs on the convex apex of the scoliotic curve had intruded into the spinal canal and were lying adjacent to the dura and spinal cord. The MRI scan did not show any cord signal intensity changes. Although rib dislocation and intrusion into the spinal canal is uncommon, images should be carefully analysed to rule out this condition in sharp angular scoliotic curves. [ABSTRACT FROM AUTHOR]

Pedicle screw fixation enables enhanced three-dimensional correction of spinal deformities and effectively shortens the distal fusion level. However, the choice of distal fusion level is still controversial in single thoracic idiopathic scoliosis with the lumbar compensatory curve not crossing the middle line (Lenke type 1 with modifier A or King type III and IV curves).The authors retrospectively analyzed 31 patients treated by segmental pedicular instrumentation alone, affected by a single thoracic adolescent idiopathic scoliosis with a compensatory lumbar curve not crossing the midline (Lenke 1A), with an average age of 16.3 years (range 10–22 years). The patients with regard to the King classification were also assessed. A statistical analysis was performed to determine whether the two groups (King III, King IV) presented differences concerning the level of the stable vertebra (SV), end vertebra (EV), and neutral vertebra (NV) and were also analyzed the results at follow-up regarding the relationships between the SV, EV, and lowest instrumented vertebra (LIV). The statistical analysis showed a significant difference between the two curve types. In the King III type curve the SV, EV, and NV appeared to be more proximal than those of the King IV type curve and the segments between the SV, EV, and NV appeared to be reduced in King III curves compared with King IV curves. At a follow-up of 3.2 years (range 2.2–5) the thoracic curve showed a correction of 58.4% (from 62.3° to 26.6°) and compensatory lumbar curve an average spontaneous correction of 52.4% (from 38.1° to 18.1°).The position of the LIV was shorter than the position of the SV in 30 patients (97%) with an average “salvage” of 2.1 (from 1 to 4) distal fusion levels. Four cases (13%), all affected by a King IV type curve, presented at follow-up an unsatisfactory results due to an “adding on” phenomenon. The statistical analysis confirmed that this phenomenon was correlated with The King IV curve ( P = 0.043; Chi-square test) and that the only predictive parameter for its onset was the LIV–SV difference (odds ratio = 0.093; with a confidence interval of 0.008–1): every time that in King IV curve type the LIV was three or more levels shorter than the stable vertebra at follow-up the “adding on” phenomenon was present. The authors conclude that Lenke’s type 1 with modifier A includes two kinds of curves, King III and King IV and that the Lenke’s type 2 curves and King V with the lumbar curve not crossing the middle line have a similar behavior. Therefore, it is of authors’ opinion that “the adding on phenomenon” could be prevented by more rigidly defining K. IV versus K. III curves. In Lenke’s 1/2 A-K. IV/V type with the rotation of the first vertebra just below the thoracic lower EV in the same direction as the thoracic curve, and when SV and EV show more than two levels of difference, it is necessary to extend the lower fusion down to L2 or L3 (not more than two levels shorter than the SV). Whereas in Lenke’s 1/2 A-K. III/V with the rotation of the first proximal vertebra of lumbar curve in the opposite direction to the thoracic apex and when SV and EV show not more than two level gap differences, the position of the lowest instrumented vertebra can be two or three levels shorter than the stable vertebra with satisfactory postoperative spinal balance. Therefore, the stable vertebra and the rotation of lumbar curve are considered to be a reliable guide for selecting the lower level of fusion. [ABSTRACT FROM AUTHOR]

Contemporary bracing developed numerous novel technical solutions to most of main aspects of the correction of structural progressive idiopathic scoliosis. This paper presents a short review on principal biomechanical rules for the three dimensional scoliosis correction. Apart from the tissue transfer, which is a known passive mechanism of rigid bracing, the other passive mechanisms are described, containing the “cherry stone” distraction effect, the thoracic derotation and the bending. A demanding technical construction of the orthosis enables active mechanisms to develop: the corrective factor of the vertebral growth, hypercorrection-oriented trunk movements and respiration, as well as the anti-gravitational mechanism, by which postural reflexes maintain the curve correction, proximally and distally out of the limits of the brace. We believe that systematic investigations unfolded in the area of neurophysiological aspects of postural control of the spinal balance will continuously improve the fascinating capabilities of the active scoliosis autocorrrection assisted by the brace. [ABSTRACT FROM AUTHOR]

For anterior correction and instrumentation of thoracic curves single rod techniques are widely used. Disadvantages of this technique include screw pullouts, rod fractures and limited control of kyphosis. This is a prospective study of 23 consecutive patients with idiopathic thoracic scoliosis treated with a new anterior dual rod system. Aim of the study was to evaluate the safety and efficacy of this new technique in the surgical treatment of idiopathic thoracic scoliosis. To the best knowledge of the authors, this is the largest series on dual rod dual screw instrumentation over the entire fusion length in thoracic scoliosis. Twenty-three patients with an average age of 15 years were surgically treated with a new anterior dual rod system through a standard open double thoracotomy approach. Average clinical and radiological follow-up was 28 months (24-46 months). Fusion was carried out mostly from end-to-end vertebra. The primary curve was corrected from 66.6 degrees to 28.3 degrees (57.5% correction) with an average loss of correction of 2.0 degrees at Cobb levels and of 1.3 degrees at fusion levels. Spontaneous correction of the secondary lumbar curve averaged 43.2% (preoperative Cobb angle 41.2 degrees ). The apical vertebral rotation was corrected by 41.1% with a consecutive correction of the rib hump of clinically 66.7%. The thoracic kyphosis measured 29.2 degrees preoperatively and 33.6 degrees at follow-up. In seven patients with a preoperative hyperkyphosis of on average 47.3 degrees thoracic kyphosis was corrected to 41.0 degrees . This new instrumentation enables an entire dual rod instrumentation over the whole thoracic fusion length. It offers primary stability without the need of postoperative bracing. Dual screw dual rod instrumentation offers the advantages of a high screw pullout resistance, an increased overall stability and satisfactory sagittal plane control. [ABSTRACT FROM AUTHOR]

The outcome of 117 consecutive cases of open spina bifida treated unselectively from birth between 1963 and 1970 and reviewed 16-20 years later is reported from the Department of Urology, Addenbrooke’s Hospital, Cambridge, England.

Diagnostic exome sequencing yields a single genetic diagnosis in ∼30% of cases, and according to recent studies the prevalence of identifying two genetic conditions in a single individual range between 4.6% and 7%. We present a patient diagnosed with three different rare conditions, each explained by a pathogenic variant in a different gene. A 17-yr-old female was evaluated for a history of motor and speech delay, scoliosis, distinctive craniofacial features, and dry skin in the Department of Clinical Genomics at Mayo Clinic. Her distinctive features included prominent forehead, epicanthus, depressed nasal bridge, narrow mouth, prognathism, malar flattening, and oligodontia. Family history was notable for dry skin in her mother and missing teeth in the paternal grandmother. Previous diagnostic testing was unrevealing including biochemical testing, echocardiogram, abdominal ultrasound, and electroencephalogram. Previous genetic testing included a microarray-based comparative genomic hybridization that was reported normal. Three pathogenic loss-of-function heterozygous variants were identified by exome trio sequencing, each linked to different genetic conditions: SIN3A (Witteveen-Kolk syndrome), FLG (dermatitis), and EDAR (ectodermal dysplasia). Together, these three genetic alterations could explain the patient's overall phenotype. This patient demonstrates the importance of performing a thorough curation of exome data when presented with a complex phenotype. Although phenotypic variability can explain some of these situations, the hypothesis of multiple diseases coexisting in a single patient should never be disregarded completely., (© 2019 Ferrer et al.; Published by Cold Spring Harbor Laboratory Press.)

Objective Three-dimensional imaging was performed to identify if Lenke 1A curves could be reclassified in subgroups to improved orthopedic or surgical treatment of adolescent idiopathic scoliosis. It seems that multitude of 3D reconstructions can exist in Lenke 1A curves. With his classification Lenke introduces new parameters in radiographic analysis of idiopathic scoliosis like frontal lumbar and thoracic sagittal modifiers. Scoliosis is defined as a three dimensional deformity in frontal, sagittal and horizontal plane. The spine is considered as an heterogeneous beam, and is modeled as a deformable wire along which vertebrae are beads rotating about the wire. Each vertebra can rotate about the 3D spinal curve. 3D spinal curve is compound of plane regions connected together by zones of transition. The 3D spinal curve is uniquely flexed along the plane regions. The objective of this study was to identify if all Lenke 1A curves could have the same 3D representation. Material/patients and methods Biplanar radiographic examination with successive exposures (frontal and sagittal) or with EOS system, coupled with photogrammetric reconstructions, may be used for reconstructing the 3D spinal curve. In definitive, we obtain the 3D reconstruction and the regional plans with their parameters. To become familiar with the Lenke classification, we classified 223 antero-posterior radiographs and profile then compared our results: 4 independent readers (2 familiar with scoliosis and 2 no). Patient's characteristics, measurements (Cobb angles in the plan region, cervical, thoracic and lumbar sagittal curves, pelvic parameters and election planes characteristics) were recorded. Results A total of 63 consecutive Lenke 1A patients were included (mean age of 11.3 years for 47 girls and 16 boys). Thoracic Cobb angle was between 14° and 70° (mean 36.5°). Pelvic incidence was between 26° and 78° (mean 52.8°) and pelvic tilt between −6° and 29° (mean 9.8°). In most of cases, we find 4 torsion planes instead in 43% instead of 3 in asymptomatic subjects and the rotation of these was very disparate. Discussion - conclusion Lenke 1A curves could be represented in a multitude of representations. The 3D representations of idiopathic scoliosis have to enter in our daily practice for the analysis and the orthopedic or chirurgical treatment of this one. [ABSTRACT FROM AUTHOR]

Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent umbilical hernia. She also has joint laxity, hypotonia, and dysmorphic features. A unifying diagnosis was not identified based on her clinical phenotype. As part of her evaluation through the Undiagnosed Diseases Network, trio whole-exome sequencing was performed. Pathogenic variants in FBN1 and TRPS1 were identified as causing two distinct autosomal dominant conditions, each with de novo inheritance. Fibrillin 1 ( FBN1) mutations are associated with Marfan syndrome and a spectrum of similar phenotypes. TRPS1 mutations are associated with trichorhinophalangeal syndrome types I and III. Features of both conditions are evident in the patient reported here. Discrepant features of the conditions (e.g., stature) and the young age of the patient may have made a clinical diagnosis more difficult in the absence of exome-wide genetic testing.

Study Design: Computer simulation to detect intervertebral motion enabling future follow-up of spinal fusions performed on patients with multilevel thoracic scoliosis., Objectives: To propose a method using computer simulation to evaluate a radiostereometric analysis (RSA) marker placement protocol for visibility and redundancy and validate the performance of the developed RSA system in detecting intervertebral motion., Summary of Background Data: Radiostereometric analysis is a stereo x-ray technique in which clusters of tantalum markers are implanted to label well-defined landmarks and measure the relative motion between rigid bodies., Methods: A model of the spine with the instrumentation and the RSA markers was developed. The vertebrae were aligned to mimic multilevel thoracic scoliosis after correction. The researchers performed virtual segment motion to validate the performance of the developed system. X-ray images were simulated and RSA was used to evaluate the proposed marker placement protocol and detect virtual motion. The authors performed a physical phantom study to evaluate marker visibility., Results: All markers were located and matched between simulations and the condition numbers were well below the recommended value of 100. Based on computer simulation, average translational accuracy was 0.14, 0.01, and 0.24 mm along the x, y, and z axes, respectively, and average rotational accuracy was 0.23°, 0.12°, and 0.11° about the x, y, and z axes, respectively. The translational and rotational precision of the simulated RSA system was generally high. The physical phantom study agreed with the computer simulation and validated marker visibility., Conclusions: Computer simulation is a powerful tool that can be used to facilitate the development and refinement of an RSA system before its application in patients, particularly when the anatomy involved is complex. The proposed marker placement protocol yielded translational and rotational accuracy below the limits of clinical significance, which enables future follow-up of multilevel thoracic scoliosis with Lenke classification 1AN., (Copyright © 2015 Scoliosis Research Society. Published by Elsevier Inc. All rights reserved.)

Abstract: A 15-year-old girl was referred to our Department by the orthopedic surgeons, showing a massive unilateral gigantomastia of her right breast and a progressive idiopathic thoracic scoliosis. Ventral positioning of the patient for the planned scoliosis correction was impossible without prior treatment of the hypertrophic breast. In the first operation the fibroadenoma with a total weight of 3020 g was resected and histological examination revealed diagnosis of a juvenile giant fibroadenoma, which is a rare tumor of the stromal breast tissue. Tumor resection was followed by anterior thoracic release and posterior scoliosis correction. [Copyright &y& Elsevier]