Search Results (8)

Background: Although effective, compressive orthotic bracing (COB) in children with pectus carinatum is still not standardized. This study has aimed to analyze current practices amongst members of the Chest Wall International Group (CWIG). Methods: A web-based questionnaire was mailed to all CWIG members at 208 departments. It included 30 questions regarding diagnostic work-up, age for COB indication, type of COB used, daily wearing time, treatment duration, complications, and recurrence rate. Results: Members from 44 departments have responded (institutional response rate 21.2%). A total of 93% consider COB as the first-line treatment for PC. A conventional COB (CC) is used in 59%, and the dynamic compression system (FMF) in 41%. The overall compliance rate is >80%. A total of 67% of responders consider COB to be indicated in patients <10 years. The actual wearing time is significantly shorter than the physician-recommended time (p < 0.01). FMF patients experience a significantly faster response than CC patients (p < 0.01). No recurrence of PC has been noted in 34%; recurrence rates of 10–30% have been noted in 61%. Conclusions: COB is the first-line treatment for PC with a high compliance rate. During puberty, the recurrence rate is high. Treatment standardization and follow-up until the end of puberty are recommended to enhance COB effectiveness. Full article

The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia caused by homozygous or compound heterozygous mutations in the MBTPS1 gene. The MBTPS1 gene encodes a protein that is involved in the regulation of cholesterol and fatty acid metabolism. Mutations in MBTPS1 can lead to reduced levels of these lipids, which can have a number of effects on development, including skeletal anomalies, growth retardation, and elevated levels of blood lysosomal enzymes. This work reports the case of a 5-year-old girl with SEDKF. The patient had a severely short stature and a number of skeletal anomalies, including kyphosis, pectus carinatum, and reduced bone mineral density. She also had early onset cataracts and inguinal hernias. Genetic testing revealed two novel compound heterozygous variants in the MBTPS1 gene. These variants are predicted to disrupt the function of the MBTPS1 protein, which is consistent with the patient’s clinical presentation. This case report adds to the growing body of evidence that mutations in the MBTPS1 gene are causal of SEDKF. We summarized the features of previous reported cases (with age ranges from 4 to 24 years) and identified that 80% had low stature, 70% low weight, 80% had bilateral cataracts and 70% showed Spondyloepiphyseal dysplasia on X-rays. The findings of this study suggest that SEDKF is a clinically heterogeneous disorder that can present with a variety of features. Further studies are needed to better understand the underlying mechanisms of SEDKF and to develop more effective treatments. Full article

Pectus carinatum (PC) is a chest deformity caused by disproportionate growth of the costal cartilages compared with the bony thoracic skeleton, pulling the sternum forwards and leading to its protrusion. Currently, the most common non-invasive treatment is external compressive bracing, by means of an orthosis. While this treatment is widely adopted, the correct magnitude of applied compressive forces remains unknown, leading to suboptimal results. Moreover, the current orthoses are not suitable to monitor the treatment. The purpose of this study is to design a force measuring system that could be directly embedded into an existing PC orthosis without relevant modifications in its construction. For that, inspired by the currently commercially available products where a solid silicone pad is used, three concepts for silicone-based sensors, two capacitive and one magnetic type, are presented and compared. Additionally, a concept of a full pipeline to capture and store the sensor data was researched. Compression tests were conducted on a calibration machine, with forces ranging from 0 N to 300 N. Local evaluation of sensors’ response in different regions was also performed. The three sensors were tested and then compared with the results of a solid silicon pad. One of the capacitive sensors presented an identical response to the solid silicon while the other two either presented poor repeatability or were too stiff, raising concerns for patient comfort. Overall, the proposed system demonstrated its potential to measure and monitor orthosis’s applied forces, corroborating its potential for clinical practice. Full article

Evaluation of the sternum is part of the routine examination of small animal thoracic radiographs. However, descriptions on frequency and type of abnormalities are lacking. This retrospective observational study aimed to describe abnormal radiographic findings of the sternum in a cross-section of client-owned dogs and cats undergoing thoracic radiography between 1 January 2019 and 1 January 2021 for reasons unrelated to diseases of the sternum. The study population consisted of 777 dogs (mean age, 7.3 ± 3.9 years) and 183 cats (mean age, 7.3 ± 5.1 years). Sternal abnormalities were observed in 189/777 (24%) dogs and 53/183 (29%) cats, mostly around the intersternebral cartilages, accounting for 32/80 (40%) dogs and 20/35 (57%) cats. This was followed by an abnormal number of sternal segments (8% dogs, range 3–9 sternebrae; 15% cats, range 7–9 sternebra). Pectus excavatum was observed in 6/777 (0.8%) dogs and 6/183 (3%) cats, and pectus carinatum in 18/777 (2%) dogs and 2/183 (1%) cats. Post-traumatic changes, such as subluxation, were observed in nine dogs (1.1%) and three cats (1.6%). Presumed prostatic carcinoma metastasis and malignant lymphoma were observed in two dogs (0.2%). Incidental radiographic sternal abnormalities are common in cats and dogs but mostly of unknown clinical relevance. Full article

The ADNP-gene-related neurodevelopmental disorder Helsmoortel–Van der Aa syndrome is a rare syndromic-intellectual disability—an autism spectrum disorder first described by Helsmoortel and Van der Aa in 2014. Recently, a large cohort including 78 patients and their detailed phenotypes were presented by Van Dijck et al., 2019, who reported developmental delay, speech delay and autism spectrum disorder as nearly constant findings with or without variable cardiological, gastroenterological, urogenital, endocrine and neurological manifestations. Among cardiac malformations, atrial septal defect, patent ductus arteriosus, patent foramen ovale and mitral valve prolapse were the most common findings, but other unspecified defects, such as mild pulmonary valve stenosis, were also described. We present two patients with pathogenic ADNP variants and unusual cardiothoracic manifestations—Bland–White–Garland syndrome, pectus carinatum superiorly along the costochondral junctions and pectus excavatum inferiorly in one patient, and Kawasaki syndrome with pericardiac effusion, coronary artery dilatation and aneurysm in the other—who were successfully treated with intravenous immunoglobulin, corticosteroid and aspirin. Both patients had ectodermal and/or skeletal features overlapping those seen in RASopathies, supporting the observations of Alkhunaizi et al. 2018. on the clinical overlap between Helsmoortel–Van der Aa syndrome and Noonan syndrome. We observed a morphological overlap with the Noonan-like disorder with anagen hair in our patients. Full article

Marfan Syndrome (MFS) is a systemic disorder caused by mutations in fibrillin-1. The most common cause of mortality in MFS is dissection and rupture of the aorta. Due to a highly variable and age-dependent clinical spectrum, the diagnosis of MFS still remains sophisticated. The aim of the study was to determine if there exist phenotypic features that can play the role of “red flags” in cases of MFS suspicion. The study population included 306 patients (199 children and 107 adults) who were referred to the Department of Pediatric Cardiology due to suspicion of MFS. All patients underwent complete clinical evaluation in order to confirm the diagnosis of MFS according to the modified Ghent criteria. MFS was diagnosed in 109 patients and marfanoid habitus in 168 patients. The study excluded 29 patients with other hereditary thoracic aneurysm syndromes. Comparative analysis between patients with Marfan syndrome and marfanoid habitus was performed. Symptoms with high prevalence and high positive likelihood ratio were identified (pectus carinatum, reduced elbow extension, hindfoot deformity, gothic palate, downslanting palpebral fissures, lens subluxation, myopia ≥ 3 dioptres remarkably high stature). The differentiation between patients with MFS and marfanoid body habitus is not possible by only assessing external body features; however, “red flags” could be helpful in the screening phase. Full article

In the last 20 years, surgical procedures in breast remodeling during mammoplasty have been deeply modified with a gradual shifting from an invasive intervention using definitive implants (DIs) to a more conservative autologous fat grafting (AFG). AFG has been used for many years as bioactive material through the Lipofilling technique and as a bioactive scaffold when it was enriched with adipose-derived stem cells (ASCs), while DIs have been considered physiologically inert biomaterials with low toxicity. The paper aimed to compare the breast remodeling results obtained in the DI group (55 patients) for hypoplasia correction with those of the ASC-enhanced AFG group (50 patients), also analyzing the influence of breast and chest deformities (tuberous breast, volume, and nipple–areola complex asymmetry, pectus excavatum and carinatum) in the cosmetic outcome. A retrospective, case-control study was conducted. The pre-operative analysis was performed with an accurate clinical evaluation, a photographic assessment, and an instrumental evaluation based on magnetic resonance imaging, mammography, and ultrasound. Of patients treated with DIs 89% (n = 49) showed excellent cosmetic results after 1 year compared with the patients treated with AFG, who showed the same results in 64% (n = 32) of cases. The naturalness of the results in the AFG group was higher than that in the DI group (p < 0.0001 vs. DI group). DIs and AFG were safe and effective in this case series treated. The AFG group showed more natural results, allowing the treatment of patients with pectus excavatum, while DIs showed the more evident and lasting result. Full article

Congenital chest wall or pectus deformities including pectus excavatum (funnel chest) and pectus carinatum (pigeon chest) affect a significant proportion of the general population and up to 70% of patients with Marfan syndrome. Patients often experience significant morbidity and psychological distress, which can worsen with age. Here we discuss new techniques for both operative and non-operative treatment of pectus deformity, the importance of a welltimed intervention and special considerations in patients with Marfan syndrome. Full article