Unilateral thoracic spinal nerve resection creates early onset thoracic scoliosis in an immature porcine model.

PURPOSE: To test whether multiple-level unilateral thoracic spinal nerves (TSN) resection can induce the initial thoracic cage deformity to cause early onset thoracic scoliosis in an immature porcine model; and 2) to create an early onset thoracic scoliosis in a large animal model that can be used to evaluate growth-friendly surgical techniques and instruments in growing spine researches. METHODS: Seventeen one-month-old pigs were assigned to 3 groups. In group 1 (n = 6), right TSN were resected from T7 to T14 with the contralateral (left) paraspinal muscle exposing and stripping. In group 2 (n = 5), the animals were treated in the same way except the contralateral (left) side was intact. In group 3 (n = 6), bilateral TSN were resected from T7 to T14. All animals were followed up for 17-weeks. Radiographs were measured and analyzed the correlation between the Cobb angle and thoracic cage deformity. A histological examination of the intercostal muscle (ICM) was performed. RESULTS: In the groups 1 and 2, an average 62 ± 12° and 42 ± 15° right thoracic scoliosis with apical hypokyphosis of a mean - 5.2 ± 16° and - 1.8 ± 9° were created, respectively, during 17-weeks follow up. All curves were located at the operated levels with the convexity toward the TSN resection side. Statistical analysis demonstrated that the thoracic deformities were strongly correlated with the Cobb angle. In group 3, no scoliosis was created in any animal, but an average thoracic lordosis of - 32.3 ± 20.3° was seen. The histological examination showed the ICM denervation on the TSN resection side. CONCLUSION: Unilateral TSN resection induced the initial thoracic deformity toward the TSN resection side resulting in thoracic hypokyphotic scoliosis in an immature pig model. This early onset thoracic scoliosis model could be used to evaluate the growth-friendly surgical techniques and instruments in future growing spine researches.

Pedicle screw placement safety with the aid of patient-specific guides in a case series of patients with thoracic scoliosis.

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.

Pattern Strabismus in a Tertiary Hospital in Southern China: A Retrospective Review.

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.

Prevalence of the thoracic scoliosis in children and adolescents candidates for strabismus surgery: results from a 1935-patient cross-sectional study in China.

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.

Sagittal spino-pelvic adjustment in severe Lenke 1 hypokyphotic adolescent idiopathic scoliosis patients.

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.

Prevalence of thoracic scoliosis in adults 25 to 64 years of age detected during routine chest radiographs.

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.

A Novel Deformity Correction Manipulation System for Better Correction of Large Thoracic Scoliosis.

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.

Modified Thoracoplasty for Rib Hump Deformity in Scoliosis Patients: A Case-Control Study.

BACKGROUND: Razorback deformity with stiff thoracic scoliosis creates a complex three-dimensional deformity. Posterior spinal fusion (PSF) and thoracoplasty can correct rib hump deformity and improve patient satisfaction. However, conventional thoracoplasty may impair pulmonary function and increase complications. We present a modified thoracoplasty (MTP) technique for addressing rib hump deformity in stiff thoracic scoliosis patients, emphasizing its clinical efficacy and safety. METHODS: This study included 44 patients with stiff thoracic scoliosis and razorback deformity who underwent surgery between January 2010 and May 2021. Patients were divided into PSF + MTP (n = 27) and PSF (n = 17) groups. Surgical parameters, complications, radiographic improvements, pulmonary function, and Scoliosis Research Society-22 scores were evaluated preoperatively and at 3 months and 2 years postoperatively. RESULTS: There were no significant differences in baseline characteristics between the 2 groups, except for the rib hump height, which was higher in the PSF + MTP group. The PSF + MTP group showed superior correction of the thoracic curve and rib hump height compared to the PSF group, with significant improvements in self-image scores. No significant differences were observed in pulmonary function between the groups. The operative time was longer in the PSF + MTP group, but there were no significant differences in intraoperative blood loss, hospitalization costs, or major complications. Regression analysis indicated that the type of surgery, thoracic Cobb angle, and preoperative self-image scores were significant predictors of postoperative self-image scores. CONCLUSIONS: MTP provides enhanced correction of thoracic curve and rib hump deformity without significantly increasing pulmonary function impairment or complication rates. It also improves patients' self-image, making it a valuable addition to PSF in treating stiff thoracic scoliosis with rib hump deformity.

Clinical Analysis and Imaging Study of Lateral Lumbar Intervertebral Fusion in the Treatment of Degenerative Lumbar Scoliosis.

OBJECTIVE: As the population ages and technology advances, lateral lumbar intervertebral fusion (LLIF) is gaining popularity for the treatment of degenerative lumbar scoliosis (DLS). This study investigated the feasibility, minimally invasive concept, and benefits of LLIF for the treatment of DLS by observing and assessing the clinical efficacy, imaging changes, and complications following the procedure. METHODS: A retrospective analysis was performed for 52 DLS patients (12 men and 40 women, aged 65.84 ± 9.873 years) who underwent LLIF from January 2019 to January 2023. The operation time, blood loss, complications, clinical efficacy indicators (visual analogue scale [VAS], Oswestry disability index [ODI], and 36-Item Short Form Survey), and imaging indicators (coronal position: Cobb angle and center sacral vertical line-C7 plumbline [CSVL-C7PL]; and sagittal position: sagittal vertical axis [SVA], lumbar lordosis [LL], pelvic incidence angle [PI], and thoracic kyphosis angle [TK] were measured). All patients were followed up. The above clinical evaluation indexes and imaging outcomes of patients postoperatively and at last follow-up were compared to their preoperative results. RESULTS: Compared to the preoperative values, the Cobb angle and LL angle were significantly improved after surgery (p < 0.001). Meanwhile, CSVL-C7PL, SVA, and TK did not change much after surgery (p > 0.05) but improved significantly at follow-up (p < 0.001). There was no significant change in PI at either the postoperative or follow-up timepoint. The operation took 283.90 ± 81.62 min and resulted in a total blood loss of 257.27 ± 213.44 mL. No significant complications occurred. Patients were followed up for to 21.7 ± 9.8 months. VAS, ODI, and SF-36 scores improved considerably at postoperative and final follow-up compared to preoperative levels (p < 0.001). After surgery, the Cobb angle and LL angle had improved significantly compared to preoperative values (p < 0.001). CSVL-C7PL, SVA, and TK were stable after surgery (p > 0.05) but considerably improved during follow-up (p < 0.001). PI showed no significant change at either the postoperative or follow-up timepoints. CONCLUSION: Lateral lumbar intervertebral fusion treatment of DLS significantly improved sagittal and coronal balance of the lumbar spine, as well as compensatory thoracic scoliosis, with good clinical and radiological findings. Furthermore, there was less blood, less trauma, and quicker recovery from surgery.

Sagittal plane assessment of manual concave rod bending for posterior correction in adolescents with idiopathic thoracic scoliosis (Lenke 1 and 3).

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.

[Increased risk of thoracic hypokyphosis after posterior spinal correction and fusion in adolescent idiopathic scoliosis with thoracic double curve]. / Erhöhtes Risiko der thorakalen Hypokyphose nach dorsaler Korrekturspondylodese bei adoleszenten idiopathischen Skoliosen mit thorakaler Doppelkrümmung.

BACKGROUND: Adolescent idiopathic scoliosis (AIS) is often associated with thoracic hypokyphosis or even lordosis. OBJECTIVES: To analyze the influence of posterior correction and fusion in thoracic, structurally double-curved AIS. MATERIAL AND METHODS: Out of 127 thoracic AIS (Lenke types 1 and 2) recorded prospectively, idiopathic double thoracic curve AIS were analyzed retrospectively. Surgery 2010-2019 with pedicle screw double rod systems in a scoliosis center. Follow-up (FU) at least 2 years. Frontal and sagittal angles (whole-spine radiographs, 2 planes): thoracic curve (MK), proximal-thoracic curve (PK) and lumbar curve (LK), thoracic kyphosis (TK), lumbar lordosis (LL). STATISTICAL ANALYSIS: values as MW ± SD, students t­test (significance a = 0.05), Pearson's correlation, sub-analysis with sagittal modifiers (-, N, +). RESULTS: A total of 47 AIS-double thoracic curve were identified, mean FU 29.3 ± 12.2 months, mean age 14 ± 1.5 years. The mean correction (FU-preop) of MK was 67%, PK 53%, LK 73%, each significant, (p < 0.05). On average, TK (FU-preop) decreased by -6.5 ± 11.6° (p < 0.05), no significant change from FU (p = 0.6). TK (FU-preop) increased by 8.6 ± 5.0° (p < 0.05) in hypokyphotic cases, significantly decreased by -4.8 ± 9.6° in normokyphotic AIS and -25.3 ± 11.1° in hyperkyphotic cases, respectively (p < 0.05). In hypokyphosis: moderately strong correlation between correction PK (r = -0.5) and spontaneous correction LK (r = 0.8) (frontal plane) and change from pre- to postop TK (sagittal plane) (p < 0.05). Moderate correlation for hyperkyphosis: correction PK (r = -0.5) and postop TK (p < 0.05). No relevant correlations for normokyphosis. 17% had postop hypokyphosis, of which 0% had preop hypokyphosis. Rod diameter (5.5 mm vs. 6 mm) had no significant effect on TC. CONCLUSIONS: Posterior instrumented correction and fusion (pedicle screw dual rod systems) can significantly correct both lateral curves in idiopathic double thoracic curves, although it is associated with an increased risk of postop thoracic hypokyphosis, especially in preoperatively normokyphotic patients.

De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.

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).

Improvement of quality of life by conservative management of thoracic scoliosis at 172°: a case report.

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.

Iatrogenic injury to long thoracic nerve following thoracotomy for right thoracic scoliosis in Marfan syndrome: a case report.

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.

Prevalence of Thoracic Scoliosis in Adolescents in Turkey: Analysis of 1065 Chest Radiographs.

BACKGROUND: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.

Effect of Direct Vertebral Rotation in Single Thoracic Adolescent Idiopathic Scoliosis: Better 3-Dimensional Deformity Correction.

OBJECTIVE: 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. METHODS: 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). RESULTS: 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). CONCLUSIONS: 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.

Three rare disease diagnoses in one patient through exome sequencing.

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.

Postoperative changes in sagittal spinopelvic alignment in sitting position in adolescents with idiopathic thoracic scoliosis treated with posterior fusion: an initial analysis.

OBJECTIVE Previous studies have reported spinal straightening and pelvic retroversion when changing from erect to sitting posture in patients with adolescent idiopathic scoliosis (AIS), which were thought to be related to low-back pain after sitting for long periods. However, the sitting sagittal alignment after posterior spinal fusion has not been evaluated. This study aims to assess the influence of posterior fusion surgery upon sitting sagittal spinopelvic alignment in adolescents with idiopathic thoracic curves (thoracic AIS [T-AIS]). METHODS A total of 44 T-AIS patients (30 Lenke I and 14 Lenke II) from the authors' center were included in this study. Preoperative and postoperative long-cassette lateral radiographs of the spine and pelvis were obtained with the patients in standing and sitting positions. Thoracic kyphosis (TK), lumbar lordosis (LL), pelvic incidence (PI), sacral slope (SS), and pelvic tilt (PT) were measured on standing and sitting lateral radiographs. Patients were divided into selective thoracic fusion (STF) and nonselective thoracic fusion (NSTF) groups. RESULTS At baseline, TK, LL, and SS decreased by 27.5%, 42.1%, and 31.1%, respectively, from the standing to the sitting position, while PT increased by 193.6%. After posterior spinal fusion, increased TK, LL, and SS and corresponding decreased PT were observed compared to baseline parameters in the sitting position. Comparison of postoperative sitting and standing values for the whole cohort showed that the mean LS and SS values were significantly lower in the sitting position (decreased by 14.0% and 13.9%, respectively, compared to standing), whereas the mean PT value was significantly greater (increased by 39.0%, compared to standing). Similar changes were also observed in the STF group: postoperatively the mean LL value was 15.6% lower in sitting than in standing, while the mean SS value was 11.5% lower. However, no obvious changes of the postoperative values in sitting were found in the NSTF group. CONCLUSIONS Nonselective thoracic fusion surgery in T-AIS patients diminished spinal straightening and pelvic retroversion during sitting. Reducing distal fusion levels was of special value in not only saving more lumbar mobility, but also preserving the function of pelvic posterior rotation.

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

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.

Untreated Thoracic Curve in Adult Idiopathic Scoliosis: What Are Patients' Concerns?

STUDY DESIGN: Retrospective two-cohort comparative analysis of data collected prospectively. OBJECTIVES: To analyze a cohort of patients with untreated thoracic curves of an adult multicenter deformity database [European spine study group (ESSG)], describe patient characteristics and concerns, and establish the rate and motivations for surgical intervention. SUMMARY OF BACKGROUND DATA: Idiopathic thoracic curves have a significant clinical and socioeconomic impact during adolescence. However, little attention has been given to adult thoracic scoliosis. The complaints of patients that have reached adulthood with an untreated thoracic curve are still not well studied. METHODS: The database of 1,142 prospective consecutive adult patients with deformity was searched to identify patients with untreated thoracic idiopathic curves: Schwab Type T curves, and Schwab Type D with thoracolumbar/lumbar (TL/L) curves <40° and a difference between main thoracic (MT) and the TL/L ≥15°. Demographic data, different radiologic preoperative parameters, and health-related quality of life questionnaires were assessed. RESULTS: Forty-two patients met inclusion criteria, showing the following characteristics: age, 30.9 ± 12.5 years; thoracic Cobb, 55.6 ± 10.8°; lumbar Cobb, 28.1 ± 7.3°; sagittal vertical axis, 2.9 ± 19.3 cm; Core Outcome Measures Index (COMI), 4 ± 2.5; Oswestry Disability Index (ODI), 20.4 ± 17.4; Scoliosis Research Society-22 questionnaire (SRS-22) subtotal, 3.6 ± 0.7; 36-Item Short Form Health Survey (SF-36) mental health, 46.1 ± 10.1; SF-36 physical health, 47.3 ± 11.1. Only 13 of these patients underwent surgery. Compared with nonoperated patients, they were younger (24.3 ± 7.3 vs. 33.8 ± 13.4 years; p = .009), had larger MT curves (58.7° ± 9.6 vs. 50.6° ± 8.3; p = .012), and had worse SRS-22 self-image scores (2.9 ± 0.8 vs. 3.5 ± 0.8; p = .042). No patients older than 50 years underwent surgery, despite having worse SRS-22 function (3.0 ± 0.9 vs. 4.1 ± 0.9, p = .032) and worse ODI scores (42.4 ± 19.9 vs. 18.7 ± 18.0, p = .026). CONCLUSIONS: Very few adult deformity patients sought treatment because of untreated thoracic scoliotic curve. The probability of undergoing surgery was low (13/42), and it was associated with youth, curve magnitude, and poor self-image. The rate of surgical treatment of the thoracic curve appears to diminish with age, despite its being associated with poorer function and greater disability in the older patient.