Brustwanddeformitäten bei Kindern und Jugendlichen

ZusammenfassungBrustwanddeformitäten im Kindes- und Jugendalter sind als Ganzes betrachtet relativ häufig, wobei sie ein weites Spektrum von zum Teil sehr seltenen Entitäten umfassen. Pectus excavatum hat die höchste Prävalenz, es können symptomatische und asymptomatische Fälle auftreten. Symptomatische Patienten sollten behandelt werden, wobei die minimalinvasive operative Korrektur als effektiveres Verfahren neben der Saugglockenbehandlung die größte Rolle spielt. Pectus carinatum und Mischformen der Brustwanddeformität können ebenfalls zu einem erheblichen Leidensdruck führen und bedürfen in solchen Fällen einer individualisierten Therapie. Syndromale Brustwanddeformitäten wie beispielsweise das Jeune-Syndrom bilden eine eigene Gruppe von sehr seltenen Erkrankungen, die erhebliche, zum Teil auch lebensbedrohliche Komorbiditäten aufweisen. Solche Patienten sollten in Zentren mit entsprechender Expertise interdisziplinär und multimodal behandelt werden. Diese Übersichtsarbeit stellt die einzelnen Brustwanderkrankungen, deren Bedeutung und mögliche Therapieansätze vor.

Minimally invasive repair of pectus carinatum using the Abramson technique

In the past, the treatment of pectus carinatum has been managed by open, invasive surgical procedures, which involved the resection of cartilage growth plates (Ravitch procedure). By preventing normal bony growth and maturity, this technique often led to postoperative complications, such as acquired thoracic dystrophy, chronic pain and scarring, and stiffness of the whole anterior chest. Dyspnea and exercise intolerance due to restricted thoracic space and cardiac compression were not uncommon as well. Over the last 2 decades, nonsurgical and minimally invasive approaches have gained ground because it was recognized that simple sternal compression was able to remodel the elastic anterior chest wall and therefore correct pectus carinatum adequately/efficiently, at least in children. However, failure of this compressive brace treatment is not uncommon in adolescents and older patients. Abramson therefore developed a minimally invasive technique for the correction of pectus carinatum using a pectus bar that is placed anteriorly to the sternum. The procedure is less invasive and less risky than a pectus bar inserted for pectus excavatum, but the lateral fixation of the pectus bar in the Abramson procedure remains a challenge. We demonstrate the technical aspects of the procedure step by step including our solution for fixation of the stabilizers.

Children's and Parents' Anxiety Levels pre and post Thoracoplasty. Play Specialist-based Intervention beneficial Outcomes

Paediatric surgery elicits anxiety in children and their parents. The present study tests the impact of Play Specialist-based intervention (PS) on children's and parents' anxiety pre and post thoracoplasty. The study was held at Gaslini pediatric hospital (Genoa, Italy) and involved families with a child undergoing thoracoplasty to correct children's pectus carinatum (PC) or excavatum (PE). Children provided with PS-based intervention (n=40) were compared with control children (n=32). The mothers of PS children (n=40) were compared with the control mothers (n=32), and the fathers of PS children (n=40) were compared with the control fathers (n=32). Visual Analog Scale (VAS) was administered to assess pre and post thoracoplasty anxiety. T-tests and Analyses of Covariance (ANCOVA), Bayes factors for t-tests and ANCOVA were computed. A significant interaction effect between time and group (i.e., PS and controls) emerged for children, mothers, and fathers. Bonferroni post-hoc analyses revealed that PS children's and PS mothers' postoperative anxiety was lower than controls' postoperative anxiety. PS fathers' experienced greater preoperative anxiety than controls and no significant differences with control fathers emerged in postoperative anxiety. PS-based intervention emerged to reduce children's and parents' anxiety over time, and to diminish children's and mothers' postoperative anxiety in comparison with the controls.

Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping

Synonymous mutations are generally considered non-pathogenic because it did not alter the amino acids of the encoded protein. Publications of the associations between synonymous mutations and abnormal splicing have increased recently, however, not much observations available described the synonymous mutations at the non-canonical splicing sites leading to abnormal splicing. In this pedigree, the proband was diagnosed Neurofibromatosis type I due to the presence of typical cafe’ au lait macules and pectus carinatum. Whole-exome sequencing identified a synonymous mutation c.6795C > T (p.N2265N) of the NF1 gene which was located at the non-canonical splicing sites. Reverse transcription polymerase chain reaction followed by Sanger sequencing was carried out, and the skipping of exon 45 was observed. Therefore, the pathogenicity of the synonymous mutation c.6795C > T was confirmed. Our finding expanded the spectrum of pathogenic mutations in Neurofibromatosis type I and provided information for genetic counseling.

ANALYSIS OF STERNAL CURVATURE PATTERNS IN PATIENTS WITH PECTUS AND CONTROL

ABSTRACT Objective: To analyze reformatted sagittal sternal tomography images and classify sternal body curvature types, and compare different types of pectus populations with one another and with normal individuals. Methods: In total, 50 controls and 167 pectus patients were selected for chest CT to analyze the median sagittal plane, of whom 89 had pectus carinatum (mean age, 12 ± 10 years) and 78 pectus excavatum (mean age, 14 ± 10 years). Clinical types of pectus were classified as inferior, superior, or lateral pectus carinatum, and localized or broad pectus excavatum. The following types of sternal patterns were defined: gradual vertical curve, gradual posterior curve, gradual anterior curve, proximal third curve, middle third curve, distal third curve, anterior rectilinear, vertical rectilinear, and posterior rectilinear. Statistical analyses were performed to compare the different types of pectus with one another and with the control group. Results: Patients with different thoracic deformities, but with similar sternal curvature patterns, were observed. Some types of sternal curvature were significantly more frequent in certain types of pectus (p < 0,05). The gradual vertical curve and anterior rectilinear types prevailed in controls (p < 0,05). Conclusion: Some sternal curvature patterns were more frequent than the others in certain types of pectus and the controls. Level of Evidence II, Prognostic studies - investigating the effect of a patient characteristic on the outcome of disease.

A new minimally invasive technique for correction of pectus carinatum

Background The Abramson technique for the correction of pectus carinatum (PC) is commonly performed worldwide. However, the postoperative complications of this technique related to bar fixation, including wire breakage and bar displacement, are relatively high. In this study, a new minimally invasive technique for correction of PC is described, in which the pectus bar is secured by bilateral selected ribs, and for which no special fixation to the rib is needed. Methods The procedure was performed by placing the pectus bar subcutaneously over the sternum with both ends of the bar passing through the intercostal space of the selected rib at the anterior axillary line. The protruding sternum was depressed by the bar positioned in this 2 intra- and 2 extra-thorax manners. Between October 2011 and September 2019, 42 patients with PC underwent this procedure. Results Satisfactory cosmetic results were obtained in all the patients. The mean operation time was 87.14 min, and the mean postoperative stay was 4.05 days. Wound infection occurred in 3 patients, 2 were cured by antibiotics, and 1 received bar removal 4 months after the initial operation due to the exposure of the implant resulting from uncontrolled infection. Mild pneumothorax was found in 3 patients and cured by conservative treatment. One patient suffered from hydropneumothorax, which was treated with chest drainage. The bars were removed at a mean duration of 24.4 months since primary repair in 20 patients without recurrence. Conclusions This new technique for minimally invasive correction of PC deformity is a safe and feasible procedure yielding good results and minimal complications.