Carinatum Research Articles

Clinical features and genetic analysis of a child with Central core disease due to compound heterozygous variants of RYR1 gene

To explore the clinical features and genetic etiology of a child with Central core disease (CCD). A child with CCD who was treated at the Children's Hematology Department of the First Affiliated Hospital of Zhengzhou University in February 2022 was selected as the study subject. Muscle biopsy was performed. Peripheral blood samples were collected from the child and his parents for the extraction of genomic DNA. The child was subjected to whole exome sequencing (WES), and candidate variant was verified by Sanger sequencing. The child, a 12-year-old boy, had manifested motor retardation, facial weakness, ptosis, pectus carinatum, scoliosis, etc. Muscle biopsy showed that the central nucleus muscle fibers and atrophic muscle fibers were mainly type I. WES revealed that the child has harbored c.10561G>A (p.G3521S) and c.3448T>C (p.C1150R) compound heterozygous variants of the RYR1 gene. Sanger sequencing confirmed that they were inherited from his mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were considered as likely pathogenic (PS4+PM1+PM2_Supporting+PP3；PM1+PM2_Supporting+PM3+PP3). By combining his clinical manifestation and results of muscle pathology and genetic testing, the child was diagnosed with CCD, which may be attributed to the c.10561G>A (p.G3521S) and c.3448T>C (p.C1150R) compound heterozygous variants of the RYR1 gene.

Compression brace for secondary pectus carinatum in infants and toddlers undergoing cardiac surgery with midline sternotomy

PurposesThis study aimed to retrospectively assess the response to a newly developed compression brace for improving the deformity of the secondary pectus carinatum in infants and toddlers undergoing cardiac surgery with midline sternotomy. Factors affecting the response to the brace were identified.MethodsFifty-one children were enrolled. Severity was expressed as the protrusion angle of the sternum obtained from chest X-ray. The patients were divided into two groups by positive or negative binary residuals of the relationship between the angle at the beginning and its percentage change after wearing the brace. Logistic regression analysis was used to identify the influencing factors.ResultsThirty patients (58.8%) showed zero and positive residuals to the relationship (good responders, Group G), whereas 21 patients showed negative residuals (poor responders, Group P). Male sex, severe cardiac anomaly, complex surgical procedure, multiple sternotomy, total duration, and self-discontinuation were associated with poor response to the brace by univariate analysis. The first three factors remained with high odds ratio for poor response by multivariate analysis. No adverse events occurred with the brace.ConclusionOur newly developed compression brace contributed, at least in part, to improve the deformity of the secondary pectus carinatum. Further studies are required to clarify the therapeutic efficacy of anterior chest compression for secondary pectus carinatum.

Case Report: Marfan’s Syndrome with Neurofibromatosis Type-2

Background Marfan’s syndrome (MFS) and neurofibromatosis type-2 (NF-2) are rare autosomal dominant diseases caused due to mutations in chromosome number 15 and 22, respectively. The chance of both the diseases occurring in the same patient is extremely rare. Case presentation In this report a rare case of a 16-year-old boy having a coexistence of both MFS and NF-2 is reported. The clinical findings consisted of musculoskeletal abnormalities consisting of laxity of joints, positive Steinberg thumb sign test, positive Walker-Murdoch wrist test, dolichostenomelia, and arachnodactyly. Anthropometric abnormalities reported an increase in lower segment height than the upper segment. Diagnostic assessment revealed pectus carinatum, multiple meningioma, and heterogeneous lesions in bilateral cerebellopontine angle that were ruled out as bilateral schwannoma confirming the diagnosis of MFS and NF-2. However, both must be regarded as novel mutations, and as the position of the two genes is unrelated, it is most probable that two different mutations have occurred. β-blocker was recommended as a prophylactic measure to minimize aortic root stiffness and control aortic root dilatation. Furthermore, surgery and radiation therapy were planned for the management of NF-2; however, the patient expressed skepticism regarding the course of treatment and follow-ups; as a result, this data was reported at the time of discharge with non-specified duration of follow-ups. Conclusions This case report demonstrates a rare case of MFS which is caused due to mutation in chromosome number 15 along with NF-2 which is caused due to mutation in chromosome number 22. Since the positions of the two genes are unrelated, it is concluded that two distinct mutations have occurred. As a result, this report highlights a rare coexistence of both mutations, which will benefit the medical profession in enhancing future studies.

Bracing of Pectus Carinatum in Children: Current Practices.

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). 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. 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%. 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.

A new custom-made bivalve brace for pectus carinatum in children and adolescents: preliminary promising experience of 140 patients from a tertiary center.

International research suggests that poor patient compliance is the main cause of tutor failures in the context of potential novel orthopedic bivalve braces for conservative treatment of pectus carinatum. Our entire experimental study is based on the hypothesis that a rigid bivalve brace that patients can accept could solve the main problem associated with the conservative approach-poor compliance. The hypothesis was to reduce the thickness and weight of the classic bivalve brace to ensure concealment and make it sustainable enough to be worn several hours a day without compromising its therapeutic efficacy. The research was conducted from January 2020 to December 2022 to ensure follow-up of all participants for at least 6 months. In 36 months, 140 patients with pectus carinatum were assessed and conservatively treated with the studied guardian to analyze the therapeutic efficacy of the bivalve brace and patient compliance. From the initial visit, the parents and patient were informed that this is a 2-year therapeutic course during which the bivalve brace should be worn at least 23 h a day (with 1 h of abstinence per day for routine personal hygiene practices). Compliance is the key to therapy success, and the duration of treatment depends on patient adherence. The exceptional effectiveness of the experimental brace was confirmed by both the questionnaire from the patients (with an average satisfaction rate of 8.9/10) and an assessment of the therapy's results by a properly selected medical committee (with a VAS scale satisfaction of 7.2/10 for symmetric forms and 7.1/10 for asymmetric ones). In conclusion, the analyzed data confirmed the research hypotheses. First, none of the 140 patients had cardiovascular diseases directly related to their condition, confirming that pectus carinatum is a pathology of a purely aesthetic nature. Second, a cheap, lightweight, and easily obscured brace significantly improved patient compliance. Along with this, the social relevance of the aesthetic aspect today may be an important factor in motivating the study cohort to adhere to therapy. In the past, esthetics and appearance were less relevant at the social level, which may have contributed to the high abandonment and reduced compliance rates of the many studies in the literature.

Evaluation of congenital rib anomalies with multi-detector computed tomography in the Turkish population.

This study aimed to evaluate the congenital anomalies of ribs in the Turkish population using multi-detector computed tomography (CT) and to reveal the prevalence and distribution of these anomalies according to sexes and body sides. This study included 1120 individuals (592 male, 528 female) over 18 who presented to our hospital with a suspicion of COVID-19 and who had thoracic CT. Anomalies such as a bifid rib, cervical rib, fused rib, Srb anomaly, foramen rib, hypoplastic rib, absent rib, supernumerary rib, pectus carinatum, and pectus excavatum, which were previously defined in the literature, were examined. Descriptive statistics were performed with the distribution of anomalies. Comparisons were made between the sexes and body sides. A prevalence of 18.57% rib variation was observed. Females had 1.3 times more variation than males. Although there was a significant difference in the distribution of anomalies by sex (p = 0.000), there was no difference in terms of body side of anomaly (p > 0.05). The most common anomaly was the hypoplastic rib, followed by the absence of a rib. While the incidence of the hypoplastic rib was similar in females and males, 79.07% of the absent ribs was seen in females (p < 0.05). The study also includes a rare case of bilateral first rib foramen. At the same time, this study includes a rare case of rib spurs extending from the left 11th rib to the 11th intercostal space. This study demonstrates detailed information about congenital rib anomalies in the Turkish population, which may vary between people. Knowing these anomalies is essential for anatomy, radiology, anthropology, and forensic sciences.

Rehabilitation for Marfan Syndrome

Abstract: Marfan syndrome is a spectrum of disorders caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. The defect itself has been isolated to the FBN1 gene on chromosome 15, which codes for the connective tissue protein fibrillin. Abnormalities in this protein cause a myriad of distinct clinical problems, of which the musculoskeletal, cardiac, and ocular system problems predominate. The skeleton of patients with Marfan syndrome typically displays multiple deformities. Mitral valve prolapses that requires valve replacement can occur as well. Given the variable expressivity of Marfan Syndrome, no single sign is pathognomonic; the diagnosis is made on clinical grounds on the basis of typical abnormalities. We reported a boy, 12 years old, referred from surgeon with diagnosis pectus carinatum pro brace. Chest protusion appeared since age 6, getting bigger without any complaint but cosmetic. Other complaints on feet which looked flat, sometimes ankle sore after long distance running or futsal. He was the first child and no family history had a condition like him. His hobby was playing futsal, and daily activities were independent without assistive devices. General appearance and vital signs were normal, cardiorespiratory assessment was normal, BMI on percentile 10-25, arm span to height ratio 1.09, lens subluxation of left eye, lens dislocation of right eye, poor standing balance, inadequate toe off, thoracic hyperkyphotic, positive wrist sign, true leg length discrepancy of 1 cm (left&gt;right), bilateral ankle ROM limitation, rigid flat feet suspected bilateral vertical talus, left hallux valgus, Marfan syndrome score 9, and normal echocardiography. In this patient, we gave semi rigid thoraco-lumbo-sacral orthosis (TLSO) with 3 points pressure system and rigid bar on protution area (custom molded). resistance exercise (F: 3x/week, I: moderate fatigue, Borg scale 13-15/20, T: 8-15 reps/ set, 2-3 set/ session, T: major muscle group upper and lower extremities aerobic exercise (F: 3x/week, I: moderate to vigorous, borg scale 13-15/20, T: ≥60 min/session, @5-10 min warming up and cooling down (stretching), T: sport (swimming, running, cycling). The patient was referred to a surgeon for a brace. In conclusion, this case report highlights the multidisciplinary management of patients with Marfan syndrome. Keywords: Marfan syndrome; typical abnormalities; multiple deformities

Pectus excavatum and carinatum: a narrative review of epidemiology, etiopathogenesis, clinical features, and classification.

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. A search was conducted for all the above-described domains in the PubMed and Embase databases. A total of 147 articles were included in this narrative review. Estimation of the true incidence and prevalence of pectus excavatum and carinatum is challenging due to lacking consensus on a definition of both deformities. Nowadays, several theories for the development of pectus excavatum and carinatum have been suggested which focus on intrinsic or extrinsic pathogenic factors, with the leading hypothesis focusing on overgrowth or growth disturbance of costal cartilages. Furthermore, genetic predisposition to the deformities is likely to exist. Pectus excavatum is frequently associated with cardiopulmonary symptoms, while pectus carinatum patients mostly present with cosmetic complaints. Both deformities are classified based on the shape or severity of the deformity. However, each classification system has its limitations. Substantial progress has been made in the past few decades in understanding the development and symptomatology of pectus excavatum and carinatum. Current hypotheses on the etiology of the deformities should be confirmed by biomedical and genetic studies. For clinical purposes, the establishment of a clear definition and classification system for both deformities based on objective morphologic features is eagerly anticipated.

Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia

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.

Non-surgical approaches to the management of chest wall deformities

Chest wall deformities in children encompass a broad spectrum of disorders but pectus excavatum and carinatum are by far the most common. Treatment varies substantially by center, and depends on patient symptoms, severity of disease, and surgeon preference.Historically, surgical approaches were the mainstay of treatment for these disease processes but new advances in non-surgical approaches have demonstrated reasonable results in select patients. These non-surgical approaches include vacuum bell therapy, autologous fat grafting and hyaluronic acid injections for pectus excavatum, and orthotic brace therapy for pectus carinatum. There is debate with regards to optimal patient selection for these non-surgical approaches, as well as other barriers including reimbursement issues.This paper will review the current non-surgical approaches to chest wall deformities available, including optimal patient selection, treatment protocols, indications, contraindications, and outcomes.

Overview of chest wall deformities.

Chest wall deformities are congenital disorders characterized by abnormal development and appearance of the thoracic wall. The most common form is the pectus excavatum deformity, known as shoemaker's chest. Pectus carinatum, known as pigeon chest, is the second most common deformity. In general, most patients are asymptomatic, but cardiopulmonary problems may accompany the disease. The indication for treatment is mostly cosmetic. Treating patients before they reach adulthood increases the chance of success. Surgical treatment can be open or minimally invasive.

Bronchiectasis with Trans Mediastinal Herniation of Left Upper Lobe in 3-Year-Old Child: A Case Report

BACKGROUND: Bronchiectasis is a disorder characterized by destruction of smooth muscle and elastic tissue due to inflammation which leads to permanent dilation of bronchi and bronchioles. It may develop in association with Cystic Fibrosis, a single severe episode or recurrent episodes of pneumonia and exposure to tuberculosis. The principal conditions associated with bronchiectasis are obstruction and infection. Infections primarily originate from issues with airway clearance, which cause bronchi and bronchioles to enlarge irreversibly. Vertical airways are notably affected, while distal bronchi and bronchioles are more severely affected. The degree of disease activity and chronicity may affect the histological findings. Childhood bronchiectasis can proceed to severe consequences including persistent bacterial bronchitis, in developing nations like India due to a lack of effective diagnosis and treatment as a result of poor health care infrastructure in the rural areas as well as limited awareness on the part of general public and health care professionals. THE CASE: A 3.5-year-old Indian boy presented with productive cough and cold for 8 days associated with low grade fever. Patient was admitted through Out Patient Department (OPD) due to respiratory distress and facial swelling. Clinical exam revealed presence of crepitation, wheeze and pectus carinatum. Patient has history of multiple hospital admissions due to pneumonia and respiratory distress. There is history of exposure to tuberculosis. His mother had been diagnosed with tuberculosis when the child was 3 months old. She received anti-tubercular drugs and is now cured. HRCT thorax reveals collapse of basal segment of right lung, trans-mediastinal space shift of left upper lobe and bi-lateral bronchiectatic changes which include unusually thickened enlarged airways exhibiting the characteristic tram-track appearance. Echocardiogram findings show thickened pericardium, mild pericardial collection and trace tricuspid valve regurgitation. The case is unique since it is quite rare for a young child to have such a severe form of bronchiectasis. CONCLUSION: Diagnosis can be done with the help of radiological and clinical examination. However, High Resolution Computed Tomography (HRCT) scan is the investigation of choice. Early management is a key factor in minimizing more serious complication like severe hemoptysis and cor pulmonale. Current treatment modalities include antibiotics, bronchodilators, anti-inflammatory drugs and chest physical therapy. Severe cases may require injectable antibiotics. Bronchiectasis was thought to be an orphan disease that seldom progressed to severe consequences, especially after the introduction of newer antimicrobials. There exist guidelines that advocate treatments for bronchiectasis, and reports of therapy have been shown to be linked with clinical success. However, such guidelines do not exist in India at present. This case is noteworthy as it portrays bronchiectasis in an Indian child that has proceeded to the severe complication of transmediastinal herniation, demonstrating that it is relatively common albeit under-diagnosed in developing countries. Though is an irreversible disease in adults, in children if detected early there is almost complete restoration of pulmonary function and adequate exercise tolerance. Early diagnosis with suitable pharmacological and non-pharmacological management is critical for a positive outcome and prevention of sequelae like persistent bacterial bronchitis.

Outcomes From a Nurse Practitioner Led Dynamic Compression System Bracing Program for Pectus Carinatum

BackgroundDynamic compression system (DCS) is often effective at treating pectus carinatum (PC). However, some patients will fail therapy. This study reports outcomes from a nurse-practitioner led bracing program, and evaluates what factors are predictive of successful therapy. MethodsWe performed a retrospective cohort study involving all patients treated with DCS bracing at our institution between February 2018 and February 2022. Patients with at least three visits were included. The primary outcome was achieving neutral chest. Factors considered potentially predictive included patient age, sex, initial pressure of correction (PIC), and the change in pressure of correction between the first two visits (deltaPC1). A Cox proportional hazards model was used for analysis, and Kaplan–Meier analyses estimated the median time to correction. Results283 patients were evaluated. The median age was 14 (IQR 12–15), the majority were male (90.1 %) and white (92.6 %). The median PIC and deltaPC1was 4.13 PSI (IQR 3.17–5.3), and 1.34 PSI (IQR 0.54–2.25), respectively. 117 patients achieved correction. The median estimated time to correction was 7.5 months (95 % CI 5.9–10.1). In the final Cox model, greater deltaPC1 was associated with increased risk of correction (HR: 2.46; 95 % CI 2.03–2.98), and increased PIC was associated with decreased risk of correction up to one year of therapy (0–3 months HR 0.62, 95 % CI 0.50–0.78; 3–12 months HR 0.62; 95 % CI 0.45–0.85). ConclusionsDCS bracing administered by advanced care providers in collaboration with surgeons can effectively treat PC. The deltaPC1 and PIC are the factors most predictive of successful therapy. Level of EvidenceLevel III.

Demographics of Anterior Chest Wall Deformity Patients: A Tertiary Children's Hospital Experience

IntroductionAnterior chest wall deformities consist of abnormal development of the chest, with the most common congenital deformities being pectus excavatum (PE) and pectus carinatum (PC). Surgical series are common, but less research is present assessing the demographics of all who present for initial evaluation. The purpose of this study is to describe the patient characteristics of those who present for ambulatory surgical evaluation. MethodsData were collected from initial patient visits to an established multispecialty chest wall deformities program at a large Children's Hospital from 2017 to 2021. Variables assessed included primary diagnosis, age, sex, race/ethnicity, and whether surgical correction was performed. ResultsA total of 1510 children were evaluated: 50.0% (n = 755) with PE, 43.3% (n = 653) with PC, 2.7% (n = 41) with mixed chest wall deformities, 0.7% (n = 10) with Poland syndrome, 1.1% (n = 17) with Currarino-Silverman syndrome, and 2.3% (n = 34) with other anterior chest wall deformities. Males and females presented at mean age of 12.8 (4.2) and 10.9 (5.5) years, respectively (P = 0.001). White children represented 61.1% of the overall population while Hispanic children represented 26.3%. White, non-Hispanic children represented 61.9% and 71.5% and Hispanic children represented 26.0% and 26.3% of the PE and PC populations, respectively. ConclusionsMost patients seen in an urban chest wall deformities clinic were White, non-Hispanic; however, the proportion of other groups such as Hispanic and Asian is greater in this cohort than previously described. Further research is ongoing to ascertain the extent to which disease predisposition versus access to care play roles in this population.

Compressive external bracing in pectus carinatum : Results of the first 100 patients

Objective: Pectus carinatum is the second most common chest wall deformity causing psychological problems. There has been a&#x0D; growing interest in the conservative treatment of the disease in recent years. Here, we present results of the first 100 patients who were&#x0D; treated with compressive external bracing therapy.&#x0D; Patients and Methods: A total of one hundred patients who were treated with compressive external bracing between 2017-2023&#x0D; were reviewed from database. Parameters recorded include demographics, type of the deformity, duration of the treatment time,&#x0D; complications, and patient satisfaction.&#x0D; Results: Among 100 patients 88 were male (88%) and 12 were female (12%) and the mean age was 13.3 years (3-19). 76 patients (76%)&#x0D; had a symmetric pectus carinatum and 24 patients (24%) had asymmetric. 23 (23%) patients had scoliosis, 9 (9%) had kyphosis, 1 (1%)&#x0D; had Poland Syndrome and 1 (1%) patient had Marfan Syndrome as accompanying anomalies. Quality of Life Questionnaire revealed&#x0D; 94.8 % satisfaction in patients who completed the treatment.&#x0D; Conclusion: Compressive external bracing is associated with satisfactory results in the treatment of pectus carinatum. This nonsurgical&#x0D; intervention enables us to treat more patients in younger ages with lesser comorbidity than surgical intervention.

Musculoskeletal phenotypes in 3q29 deletion syndrome.

3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000-197350000). 3q29del is associated with neurodevelopmental and psychiatric phenotypes, including an astonishing >40-fold increased risk for schizophrenia, but medical phenotypes are less well-described. We used the online 3q29 registry of 206 individuals (3q29deletion.org) to recruit 57 individuals with 3q29del (56.14% male) and requested information about musculoskeletal phenotypes with a custom questionnaire. 85.96% of participants with 3q29del reported at least one musculoskeletal phenotype. Congenital anomalies were most common (70.18%), with pes planus (40.35%), pectus excavatum (22.81%), and pectus carinatum (5.26%) significantly elevated relative to the pediatric general population. 49.12% of participants reported fatigue after 30 min or less of activity. Bone fractures (8.77%) were significantly elevated relative to the pediatric general population. Participants commonly report receiving medical care for musculoskeletal complaints (71.93%), indicating that these phenotypes impact quality of life for individuals with 3q29del. This is the most comprehensive description of musculoskeletal phenotypes in 3q29del to date, suggests ideas for clinical evaluation, and expands our understanding of the phenotypic spectrum of this syndrome.

Modeling of the chest wall response to prolonged bracing in pectus carinatum.

Pectus carinatum is a chest wall deformity that is often treated through the wearing of an external brace. The treatment of the deformity could benefit from a greater understanding of chest wall characteristics under prolonged loading. These characteristics are difficult to model directly but empirical studies can be used to create statistical models. 185 patients from 2018-2020 received bracing treatment. Data on the severity of the deformity, treatment pressures, and time of wear were recorded at the first fitting and all subsequent follow-up visits. This data was analyzed using a statistical mixed effects model to identify significant measures and trends in treatment. These models were designed to help quantify changes in chest wall characteristics through prolonged bracing. Two statistical models were created. The first model predicts the change in the amount of pressure to correct the deformity after bracing for a given time and pressure. The second model predicts the change in pressure response by the body on the brace after bracing for a given time and pressure. These models show a high significance in the amount of pressure and time to the changes in the chest wall response. Initial deformity severity is also significant in changes to the deformity. The statistical models predict general trends in pectus carinatum brace treatment and can assist in creating treatment plans, motivating patient compliance, and can inform the design of future treatment systems.

Modification of the Abramson procedure for minimally invasive repair of pectus carinatum: introduction of a pectus carinatum compression system.

Pectus carinatum is characterized by a protruding sternum. This deformity can be surgically corrected through the minimally invasive Abramson technique. In this procedure, a presternal metal correctional bar, secured to rib-attached stabilizers, is implanted to redress the sternum to a neutral position. To anticipate the intended position of the sternum, manual compression is applied over the sternal deformity. We describe a modified version of the Abramson procedure, encompassing a table-mounted PectusAssist™ System which generates a constant mechanical compression over the protruding sternum. The PectusAssist™ System, most importantly, eliminates the necessity of manually applying repetitive pressure on the deformity, and therefore maintains a more stable sternal position. This will ensure accuracy of the template used to bend the bar into its desired configuration. The modification we propose also simplifies presternal tunnel creation as the two bilateral retromuscular tunnels, that need to be connected presternally, are potentially better aligned due to a more stable and reduced position of the sternum. The PectusAssist™ System makes the procedure less labor intensive and reduces variability without interfering with the safety of the procedure. Therefore, we advise standard use of the PectusAssist™ System during minimally invasive repair of pectus carinatum by the Abramson procedure.

Successful Repair of Congenital Morgagni Hernia and Ventricular Septal Defect via Median Sternotomy in a Patient with Down Syndrome, Anal Atresia, Pectus Carinatum and Congenital Hypothyroidism

Successful Repair of Congenital Morgagni Hernia and Ventricular Septal Defect via Median Sternotomy in a Patient with Down Syndrome, Anal Atresia, Pectus Carinatum and Congenital Hypothyroidism

Clinical characteristics of 111 cases with mucopolysaccharidosis ⅣA

Objective: To analyze the clinical characteristics of patients with Mucopolysaccharidosis ⅣA (MPS ⅣA). Methods: A retrospective study was conducted on 111 patients with MPS ⅣA in Xinhua Hospital of Shanghai Jiao Tong University School of Medcine from December 2008 to August 2020, confirmed by enzyme activity and genetic testing. General situation, clinical manifestations and enzyme activity test results were analyzed. According to the clinical manifestations, it can be divided into severe, intermediate and mild group. The independent sample t test was used to compare the birth body length and weight of children with that of normal boys and girls, and group comparisons of enzyme activities were evaluated by median test. Results: One hundred and eleven unrelated patients, 69 males and 42 females, were classified into 3 subtypes: severe (n=85), intermediate (n=14), and mild (n=12). The age at symptom onset were 1.6 (1.0, 3.0) years, and at diagnosis were 4.3 (2.8, 7.8) years. Skeletal manifestations were observed in all patients and consisted mainly of pectus carinatum (96/111, 86.5%), motor dysfunction (78/111, 70.3%), spinal deformity (71/111, 64.0%), growth retardation (64/111, 57.7%), joint laxity (63/111, 56.8%) and genu valgum (62/111, 55.9%). Eighty-eight patients (88/111, 79.3%) with MPS ⅣA were also along with non-skeletal manifestations, mainly including snoring (38/111, 34.2%), coarse faces (34/111, 30.6%), and visual impairment (26/111, 23.4%). The most common skeletal manifestation was pectus carinatum (79 cases), and non-skeletal manifestation was snoring (30 cases) and coarse faces (30 cases) in severe patients, pectus carinatum (13 cases) and snoring (5 cases) in intermediate type, motor dysfunction (11 cases) and snoring (3 cases) and visual impairment (3 cases) in mild patients. The height and weight of severe patients began to fall below -2 s at 2-<5 years and 5-<7 years, respectively. At the age of 10-<15 years, the standard deviation score of the height of severe patients reached (-6.2±1.6) s in males and (-6.4±1.2) s in females, and the score of weight got (-3.0±1.1) s in males and (-3.5±0.5) s in females. The height of intermediate patients began to fall below -2 s at the age of 7-<10 years, and the standard deviation score of height were -4.6 s and -3.6 s in 2 males, and -4.6 s and -3.8 s in 2 females at the age of 10-<15 years. The weight remained within -2 s in 72.0% (18/25) of intermediate patients compared to age-matched healthy children. In the mild patients with MPS ⅣA, the mean standard deviation score of height and weight was within -2 s. The enzyme activities of mild patients (2.02 (1.05, 8.20) nmol/(17 h·mg)) were both significantly higher than that of intermediate (0.57 (0.47, 0.94) nmol/(17 h·mg)) and severe (0.22 (0, 0.59) nmol/(17 h·mg)) patients (Z=9.91, 13.98, P=0.005, 0.001), and the enzyme activity of intermediate patients was significantly higher than that of severe patients (Z=8.56, P=0.010). Conclusions: The clinical manifestations of MPS ⅣA are charactered by pectus carinatum, motor function impairment, spinal deformity and growth retardation. The clinical characteristics, growth rate and enzyme activity differ among the 3 subtypes of MPS ⅣA.