Pectus

Trichohepatoneurodevelopmental syndrome is an extremely uncommon autosomal recessive disorder resulting from variants in the CCDC47 gene, which encodes a Ca2+ -binding endoplasmic reticulum (ER) transmembrane protein. To date, only four patients with CCDC47 deficiency have been reported, all of them with homozygous truncating CCDC47 variants. For this study, a Chinese family was recruited, which included a patient diagnosed with trichohepatoneurodevelopmental syndrome. Whole exome sequencing (WES) identified the proband's novel homozygous CCDC47 variation (NM_020198: c...

BACKGROUND: Campotodactyly-artrhropathy-coxa vara-pericarditis (CACP) syndrome is a very rare autosomal recessive genetic disorder. It is characterized by flexion contracture of the fifth finger (camptodactyly); noninflammatory arthropathy; decreased angle between the shaft and the head of the femur (coxa vara) and pericarditis. Its association with mitral stenosis has not yet been reported. Hereby we report this unique association with CACP syndrome. CASE: An eleven-year-old girl presented with non-productive cough, dyspnea, and orthopnea...

Congenital absence of sternum is a rare malformation of the anterior chest wall that needs surgical correction to avoid life-threatening complications as a consequence of such defect. It results from either partial or complete failure of fusion of mesenchymal strip during in utero organogenesis. The absence of sternum entails the risk of trauma to the mediastinal structures and other life-threatening complications. This defect is evaluated by a thorough clinical examination and computed tomography imaging of the thoracic cage to plan the surgical procedure...

BACKGROUND AND OBJECTIVE: A wide variety of congenital chest wall deformities that manifest in infants, children and adolescents exists, among which are pectus excavatum and pectus carinatum. Numerous studies have been conducted over the years aiming to better understand these deformities. This report provides a brief overview of what is currently known about the epidemiology, etiopathogenesis, clinical presentation, and classification of these deformities, and highlights the gaps in knowledge...

INTRODUCTION: Pectus excavatum is a wall deformity that often warrants medical evaluation. In most cases, it's a purely visual aesthetic alteration, while in others, it comes with symptoms. Several surgical techniques have been described, but their outcomes are difficult to assess due to the heterogeneity of presentations and the lack of long-term follow-up. We present our experience as thoracic surgeons, assessing correction as either structural (remodeling of the thoracic cage through open surgery) or aesthetic (design and implantation of a customized 3D prosthesis)...

OBJECTIVES: Bar dislocation is one of the most feared complications of the minimally invasive repair of pectus excavatum (MIRPE). METHODS: Prospective randomized parallel-group clinical trial intending to assess whether oblique stabilizers can reduce bar displacement in comparison with regular stabilizers used in MIRPE. Additionally, we evaluated pain, quality of life (QoL) and other postoperative complications. Participants were randomly assigned to surgery with perpendicular (n = 16) or oblique stabilizers (n = 14) between October 2017 and September 2018 and followed for three years...

BACKGROUND: Ehlers-Danlos syndrome (EDS) refers to a group of heritable connective tissue disorders (HCTDs). Clinical hallmarks of EDS include tissue fragility, joint hypermobility, and skin hyperextensibility. One of the consequences of tissue fragility is abnormal wound healing and scar formation, posing potential challenges for surgeons treating these patients. There are limited previous reports of EDS patients undergoing mastectomy and/or breast reconstruction, and none wherein the patient had diagnoses of both vascular EDS (vEDS) and classical EDS (cEDS)...

BACKGROUND: Postoperative pain management following minimally invasive repair of pectus excavatum (MIRPE) remains a critical concern due to severe post-procedural pain. Promising results have been reported for cryoanalgesia following MIRPE; however, its invasiveness, single-lung ventilation, and additional instrumentation requirements remain obstacles. Serratus anterior plane block (SAPB) is a regional block technique capable of covering the anterior chest wall at the T2-9 levels, which are affected by MIRPE...

We report a case of successful implantation of a subcutaneous implantable cardioverter-defibrillator in a young patient with severe pectus excavatum presenting with out-of-hospital ventricular fibrillation arrest who was recently surgically repaired with a MIRPE-Nuss procedure. No complications in lead positioning were observed, and the device was tested to determine that it functioned properly.

KEY CLINICAL MESSAGE: Common complications after PE surgery include ventricular tachycardia, cardiac arrest, pneumothorax, and bar displacement. These can lead to severe outcomes, emphasizing the need for caution and meticulous post-operative monitoring. Patients and their families should be well-informed about potential risks during the consent process. ABSTRACT: The objective of this study was to raise awareness among medical staff and surgeons about potential complications, particularly rare and life-threatening ones, associated with pectus excavatum (PE) surgery...

BACKGROUND: Pectus excavatum, the most common chest wall deformity, is frequently treated with Nuss procedure. Here we will describe non-invasive procedure and analyze the variables associated vacuum bell therapy for patients with pectus excavatum. METHODS: Retrospective case-control study in a single center between July 2018 and February 2022, including patients with pectus excavatum treated with vacuum bell. Follow-up was continued to September 2022. The Haller index and Correction index was calculated before and after treatment to analysis the effectiveness of vacuum bell therapy...

No abstract text is available yet for this article.

BACKGROUND: Chest wall re-depression after bar removal (BR) in pectus excavatum (PE) is insufficiently investigated. However, it is not easy to investigate chest wall re-depression due to its multifactorial characteristics. Herein, we investigated chest wall re-depression after BR using machine learning algorithms. To the best of my knowledge, this is the first study of chest wall re-depression after BR using machine learning algorithms. METHODS: We retrospectively reviewed 199 consecutive subjects who underwent both minimally invasive repair of pectus excavatum (MIRPE) and BR at a single hospital from March 2012 to June 2020...

Pectus excavatum, the most common pectus deformity, varies in severity and has been associated with cardiopulmonary impairment and psychological distress. Since its initial documentation, a multitude of imaging techniques for preoperative evaluation (i.e., diagnosis, severity classification, functional assessment, and surgical planning) have been reported. Conventional imaging techniques encompass computed tomography (CT), chest radiography, magnetic resonance imaging (MRI), echocardiography and medical photography, while three dimensional (3D) optical surface imaging is a promising emerging technique in the preoperative assessment of pectus excavatum...

BACKGROUND: Intercostal nerve cryoablation (INC) has been shown to reduce postoperative pain and length of stay following surgical correction of pectus excavatum (SCOPE). Some patients have developed chest wall dermatological symptoms after INC that can be mistaken for metal allergy or infection. The purpose of this study is to report the symptoms, severity, incidence, and treatment of post-cryoablation dermatitis. METHODS: A retrospective single institution review was performed for patients who underwent SCOPE with and without INC between June 2016 and March 2023 to assess for incidence of postoperative dermatological findings...

OBJECTIVE: This study aims to translate the Pectus Excavatum Evaluation Questionnaire(PEEQ) into Chinese, and to comprehensively assess subjective outcomes in quality of life of children with pectus excavatum. METHODS: The PEEQ was translated from English to Chinese as according to the PRO translation guidelines. Structural validity and reliability of the questionnaire were examined by validated factor analysis and Cronbach's alpha coefficient analysis respectively...

PURPOSE: Pectus excavatum (Pectus) repair may be offered for those with significant cardiopulmonary compromise or severe cosmetic defects. The influence of hospital center volume on postoperative outcomes in children is unknown. This study aimed to investigate the outcomes of children undergoing Pectus repair, stratified by hospital surgical volume. METHODS: The Nationwide Readmission Database was queried (2016-2020) for patients with Pectus (Q67.6). Patients were stratified into those who received repair at high-volume centers (HVCs; ≥20 repairs annually) versus low-volume centers (LVCs; <20 repairs annually)...

OBJECTIVE: Describing the Compounded Complication Rate (CCR) of MinimaI invasive Repair of Pectus Excavatum (MIRPE), identifying predisposing risk factors, and evaluating the optimal timing of correction. BACKGROUND: MIRPE is standard PE treatment and consists of two invasive procedures e.g., correction with bar insertion followed by bar removal after 2-3 years. METHODS: A retrospective cohort study identifying children, adolescents and adults of both genders corrected for PE with MIRPE between 2001 and 2022...

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...

BACKGROUND: Pectus excavatum (PE) is the most common congenital abnormality of the chest wall. Most patients with PE have slim bodies. Some studies have been conducted on the physical growth of children and adolescents who underwent the Nuss procedure. This study aimed to evaluate body measurement changes in adult patients with PE after the Nuss procedure. METHODS: A total of 272 adult PE patients, who underwent the Nuss procedure and pectus bars removal from August 2014 to December 2020, were evaluated retrospectively...