Spinal posture, mobility, and position sense in adolescents with chest wall deformities: a comparison of pectus excavatum, pectus carinatum and healthy peers.

PURPOSE: The study aimed to compare spinal posture, mobility, and position sense in adolescents with pectus excavatum (PE), pectus carinatum (PC), and healthy control (HC). METHODS: 22 with PE, 22 with PC, and 21 HC were included in the study. The spinal posture (thoracic kyphosis, lumbar lordosis, pelvic tilt, thoracic, lumbar, pelvic lateral tilt angles) and mobility (thoracic, lumbar, hip/sacral, and overall, in the sagittal and frontal plane) with the spinal mouse, and spinal position sense (repositing errors) with the inclinometer were assessed. RESULTS: The thoracic kyphosis angle of PE and PC was higher than in HC (p < 0.001; p = 0.001). Hip/sacral mobility in the sagittal plane was lower in the PE and PC than control, respectively (p < 0.001; p < 0.001). Overall sagittal spinal mobility (p:0.007) and hip/sacral mobility in the frontal plane (p:0.002) were lower in the PC than in HC. Overall frontal spinal mobility was lower in the PE and PC than in HC (p:0.002; p:0.014). The PE and PC repositing errors were higher (p < 0.001; p:0.014). CONCLUSION: The study found that adolescents with PE and PC had decreased spinal mobility, spinal alignment disorders, and a decline in spinal position sense. It is important not to overlook the spine during physical examinations of adolescents with chest wall deformities. In clinical practice, we suggest that adolescents with chest deformities should undergo a spine evaluation and be referred for physical therapy to manage spinal disorders.

Comparison of physical functions and psychosocial conditions between adolescents with pectus excavatum, pectus carinatum and healthy controls.

PURPOSE: The present study aimed to compare the physical and psychosocial conditions of adolescents with pectus excavatum (PE) and pectus carinatum (PC), who had mild-severe deformities, with those of healthy controls (HC). METHODS: This study included 180 adolescents (aged 10-18 years) with pectus deformity [PE (n = 90) and PC (n = 90)] and 90 age-matched HC. The following parameters were evaluated for each participant: clinical parameters, perceived appearance of the chest area (PAC), physical functions (grip strength, flexibility, muscle strength, endurance, physical activity), posture, psychosocial conditions, and quality of life (QOL). RESULTS: Patients with PE and PC had a lower body weight, a worse, a poorer posture, lower scores for physical functions compared to the HC group (p < 0.001, all). The PE group had lower scores (p < 0.05) for some psychosocial conditions and quality of life subscales compared to the HC and PC (except for the QOL) group (p < 0.05). The PC group had a poorer posture compared to the PE group (p < 0.05). PAC was associated with physical functions and psychosocial status (r = 0.19-0.40, p < 0.05) but pectus severity was not associated with these parameters (r = 0.02-0.12, p > 0.05). CONCLUSION: Our results indicate that all adolescents with mild, moderate, or severe pectus deformity should undergo a biopsychosocial evaluation, receive psychosocial support, and be referred for physiotherapy.

Effectiveness of Compressive External Bracing in Patients with Flexible Pectus Carinatum Deformity: A Review.

There has been a growing interest in the nonoperative treatment of chest wall deformities over the last few decades; with the advent of external compressive orthotics, similar outcomes have been reported compared with surgical intervention. There have been fewer major complications reported with dynamic compression bracing on the chest wall; however, the Achilles heel of this approach still lies with treatment tolerability and compliance. A Medline literature search was undertaken to evaluate the evidence concerning the techniques, modifications, and outcomes associated with external compressive bracing in the setting of pectus carinatum. Sixteen articles were integrated after literature review and data were collected on methods of assessing pectus carinatum (degree of severity as well as type), patient selection protocol (i.e., suitability for external compressive bracing), the bracing protocol itself, duration of treatment, metrics used to assess outcome, and success, compliance, and dropout rate, and length of long-term follow-up. Compressive external bracing appears to be a safe and well tolerated nonsurgical treatment option for young patients with flexible pectus carinatum deformities. However, there is still a need for robust level I randomized data from multiple centers with a clearly standardized bracing protocol, objective measurement of outcomes, and recording of results at the end of the bracing treatment program in sufficiently powered sample sizes over a significant follow-up period.

Pectus Carinatum: a non-invasive and objective measurement of severity.

To date, standard methods for assessing the severity of chest wall deformities are mostly linked to X-ray and CT scans. However, the use of radiations limits their use when there is a need to monitor the development of the pathology over time. This is particularly important when dealing with patients suffering from Pectus Carinatum, whose treatment mainly requires the use of corrective braces and a systematic supervision. In recent years, the assessment of severity of chest deformities by means of radiation-free devices became increasingly popular but not yet adopted as standard clinical practice. The present study aims to define an objective measure by defining a severity index (named External Pectus Carinatum Index) used to monitor the course of the disease during treatment. Computed on the optical acquisition of the patients' chest by means of an appositely devised, fast and easy-to-use, body scanner, the proposed index has been validated on a sample composed of a control group and a group of Pectus Carinatum patients. The index proved to be reliable and accurate in the characterization of the pathology, enabling the definition of a threshold that allows to distinguish the cases of patients with PC from those of healthy subjects. Graphical abstract.

Development and validation of the Pectus Carinatum Body Image Quality of Life (PeCBI-QOL) questionnaire.

INTRODUCTION: While body image disturbances and quality of life in persons with pectus excavatum (PE) have been well documented, very little has been done to systematically measure and document the same in patients with pectus carinatum (PC). Because of this, the current study aimed to develop and validate an instrument to assess body image related quality of life in patients with PC and their parents. METHOD: Participants: Two waves of data collection took place. The development phase enrolled 78 PC patients and 76 matched parents. The validation phase enrolled 50 PC patients and 50 parents. Mean age at the initiation of treatment was 15.14 (SD = 2.54). Participants were mostly boys (85.9%) and White or Caucasian (89.7%). Instrument development, refinement, and validation: A group of 5 experts in chest wall deformities used existing measures of body image disturbances in PE, combined with the broader body image literature, to develop larger item pools for patients and their parents. Item analysis from this phase was used to remove poorly performing or statistically redundant items. In the validation phase, refined patient and parent instruments were examined using exploratory principal components factor analysis (EFA) with parallel analysis for factor retention, followed by Varimax rotation to identify a final factor solution. RESULTS/DISCUSSION: This development and refinement process yielded a final questionnaire for patients (18 items) and parents (15 items). The patient questionnaire includes four subscales, each with good internal consistency: Body Image Disturbance; Treatment Motivation/Engagement; Physical Limitations; and Social Disadvantage. The parent questionnaire includes 3 subscales: Body Image Disturbance; Treatment Motivation/Engagement; Physical Limitations. Patient and parent scales showed moderate correlations. Among patients with measures pre- and posttreatment, there was a significant improvement in overall PeCBI-QOL score. We demonstrate, in this study, that body image and related quality of life can be reliably and validly assessed with the PeCBI-QOL, which has implications for more comprehensively documenting the negative psychological and functional consequences of pectus carinatum. TYPE OF STUDY/LEVEL OF EVIDENCE: Study of diagnostic test/III.

Long-Term Results of Compressive Brace Therapy for Pectus Carinatum.

BACKGROUND: Pectus carinatum (PC) is one of the most common types of congenital chest wall deformity. Recently, noninvasive compressive brace therapy has been more frequently used than invasive surgical correction to treat PC. Hence, the purpose of this study was to determine the long-term outcome of compressive brace therapy. METHODS: We retrospectively reviewed patients with PC who underwent compressive brace therapy between January 2014 and December 2016. All patients underwent a 2-week compression period, in which braces were worn for 20 hours per day, followed by a 6-month maintenance period, in which braces were worn for 12 hours per day. Patient satisfaction was investigated via telephone survey. RESULTS: A total of 320 patients were included in this study. The average age was 13 years, and 280 were males (87.5%). The median follow-up period was 42 months (13-68). Good compliance was observed in 286 patients (89.4%; compliance group). In this group, the initial Haller index significantly increased from 2.20 ± 0.31 to 2.59 ± 0.38 after the 6-month therapy period (p = 0.001). After the 6-month period, 255 patients (89.1%) and 31 patients (12.1%) in the compliance group were very satisfied and satisfied, respectively. Satisfaction at the last follow-up via telephone survey was very satisfied in 250 patients (87.4%) and satisfied in 36 (12.6%). In the compliance group, no patient needed compressive braces again after the therapy period. CONCLUSION: Given the findings presented in this study, compressive brace therapy appears to be a relatively simple and safe method with good long-term outcome in treating patients with PC.

Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene.

Chitayat syndrome (CHYTS, MIM #617180) is a rare autosomal dominant clinical condition caused by a single missense pathogenic variant in the ERF gene (19q13.2, MIM*611888), which encodes the ETS2 Repressor Factor (ERF) protein. The characteristic features reported to date for this condition are facial dysmorphism, hyperphalangism and respiratory complications during the newborn period. Herein, we report the sixth patient worldwide with a confirmed molecular diagnosis of CHYTS. Our documentation of pectus carinatum, hypoplastic phalanges (as in two previously described patients), and lack of hyperphalangism broadens the phenotypic spectrum of CHYTS. Moreover, our identification of a heterozygous mutation [c.266A>G or p.(Tyr89Cys)] [rs886041001] in this patient provides further evidence that this condition is caused by a recurrent pathogenic variant in ERF.

[Surgical treatment of pectus carinatum in children]. / Khirurgicheskoe lechenie kilevidnoi deformatsii grudnoi kletki u detei.

AIM: To improve the results of surgical treatment of pectus carinatum. MATERIAL AND METHODS: The work included 47 pectus carinatum patients aged 3-15 years for the period from 2000 to 2015. All patients were divided into 2 groups depending on surgical approach: control group - 23 (48.94%) children who underwent thoracoplasty by M.M. Ravitsh procedure with the use of device for pectus carinatum repair of our design; main group - 24 (51.06%) patients where our method of thoracoplasty based on changes of deformed ribs biomechanics was used. RESULTS: In control group good results were obtained in 15 (65.3%) patients, satisfactory - in 5 (21.7%) patients, recurrent deformation with all consequences was observed in 3 (13%) cases. Long-term results of surgical treatment by original method were followed-up in all 24 patients and good outcomes were obtained in 100% of children. CONCLUSION: 1) Intraoperative 'spring' - effect is a provoking risk factor of recurrent chest deformation. 2) The new surgical method based on breaking the ribs bodies in 'green branch' fashion provides good results and does not require external devices to hold sternal-rib complex in corrected position.

[Costal cartilage structural and functional changes in children with a funnel or keeled chest]. / Strukturnye i funktsional'nye izmeneniia rebernykh khriashchei pri voronkovidnoi i kilevidnoi deformatsii grudnoi kletki u detei.

Congenital chest wall deformities (CCWDs) in children are severe diseases leading to cosmetic defects and diseases of the respiratory and cardiovascular systems. The most common of these deformities are funnel-shaped (pectus excavatum, FD) and keeled (pectus carinatum, KD) ones. The pathogenesis of CCWDs and the role of costal cartilage structural and functional changes in their pathogenesis have now been not well studied, which makes it difficult to elaborate pathogenetic approaches to correcting these diseases. Analysis of the literature has shown that structural and functional changes occur in the matrix and chondrocytes from the costal cartilage in FD. Similar costal cartilage changes are observed in KD. It is still unknown exactly which pathological processes are present in the costal cartilage and how they result in the development of one or other type of CCWDs. The role of amianthoid transformation (AT) of costal cartilages in these processes is also unknown. It is not improbable that it is AT drastically changing the native cartilage matrix, which is one of the key mechanisms leading to changes in its properties and to the subsequent development of FD or KD.

Pectus deformities and their impact on pulmonary physiology.

Pectus excavatum (PE) and pectus carinatum (PC) are the most common anomalies of the thoracic cage and they have been recognized since ancient times [1-3]. The two conditions differ in their appearance, and their effect on lung function. There is no direct correlation between the appearance of the deformities and the clinical symptoms. Whether, and when these deformities should be corrected as well as with which method (surgical or conservative) remain controversial. The following article reviews the current concepts regarding the pathophysiology of both conditions as well as the advances in their evaluation and management.

Evaluation of sternochondroplasty efficacy in treatment of pectus deformities.

PURPOSE: This study aimed to evaluate the efficacy of sternochondroplasty for repair of pectus deformities. METHODS: Thirty-three patients underwent repair of pectus deformity with a sternochondroplasty technique between 1989 and 2009. Studied variables were age, sex, symptoms, pulmonary function tests before and after surgery, Haller index, complications, recurrence, and cosmetic results. RESULTS: The median age at operation was 13.27 years. Twenty patients (13 male and 7 female) had pectus excavatum, and 13 (11 male and 2 female) had pectus carinatum. Congenital anomalies associated with pectus excavatum included a skeletal anomaly in 6 (30%) patients and a cardiac anomaly in 4 (20%); only 1 patient with pectus carinatum had cardiac anomaly. Inspiratory vital capacity and forced expiratory volume in 1 s were significantly different before and after surgery in patients with pectus excavatum, but there was no significant difference in functional residual capacity. Pulmonary function tests showed no significant differences before and after surgery in patients with pectus carinatum. Complications after surgery were seroma in 2 cases and 1 case each of pneumothorax and atelectasis. Recurrence was observed in 2 cases of pectus excavatum. The cosmetic result was excellent in 93.9% of cases. Hospital mortality was zero. CONCLUSION: Sternochondroplasty is a desirable procedure for repairing pectus deformities. This procedure has minimal complications and the cosmetic and physiologic results are excellent.