Chest Wall Program
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Report Scientifico 2017
IRCCS – Istituto Giannina Gaslini Report Scientifico 2017 Sommario LA RICERCA AL GASLINI ...................................................................................................................... - 1 - PRESENTAZIONE DEL DIRETTORE SCIENTIFICO .......................................................................................... - 2 - TOP ITALIAN SCIENTISTS (TIS) DELLA VIA ACADEMY .................................................................................. - 4 - PUBBLICAZIONI - ANNO DI RIFERIMENTO 2017 ............................................................................................ - 6 - CONTRIBUTO DELLE VARIE UNITÀ OPERATIVE ALLA PRODUZIONE SCIENTIFICA 2017 ..................................... - 9 - LINEE DI RICERCA E PUBBLICAZIONI 2017 .......................................................................................... - 13 - LINEA DI RICERCA 1: STRATEGIE DIAGNOSTICHE INNOVATIVE ................................................................... - 14 - LINEA DI RICERCA 2: PEDIATRIA CLINICA , MEDICINA PERINATALE E CHIRURGIE PEDIATRICHE ..................... - 27 - LINEA DI RICERCA 3: IMMUNOLOGIA CLINICA E SPERIMENTALE E REUMATOLOGIA ....................................... - 59 - LINEA DI RICERCA 4: ONCO -EMATOLOGIA E TERAPIE CELLULARI ................................................................ - 74 - LINEA DI RICERCA 5: PATOLOGIE MUSCOLARI E NEUROLOGICHE ................................................................ - 86 - SEMINARI 2017 ............................................................................................................................. -
Characterization of SPECC1L Function in Palatogenesis
Characterization of SPECC1L Function in Palatogenesis By © 2019 Everett Gordon Hall B.A. Biology, Westminster College, Missouri, 2013 Submitted to the graduate degree program in Anatomy and Cell Biology and the Graduate Faculty of the University of Kansas in partial fulfillment of the requirements for the degree of Doctor of Philosophy. ________________________________________ Chair: Dr. Irfan Saadi ________________________________________ Dr. András Czirók ________________________________________ Dr. Brenda Rongish ________________________________________ Dr. Paul Trainor ________________________________________ Dr. Pamela Tran ________________________________________ Dr. Jinxi Wang Date Defended: April 26, 2019 The dissertation committee for Everett Gordon Hall certifies that this is the approved version of the following dissertation: Characterization of SPECC1L Function in Palatogenesis ________________________________________ Chair: Dr. Irfan Saadi Date Approved: May 16, 2019 ii Abstract Orofacial clefts are among the most common congenital birth defects, occurring in as many as 1 in 800 births worldwide. Genetic and environmental factors contribute to the complex etiology of these anomalies. SPECC1L encodes a cytoskeletal protein with roles in adhesion, migration, and cytoskeletal organization. SPECC1L mutations have been identified in patients with atypical clefts, Opitz G/BBB syndrome, and Teebi hypertelorism syndrome. Our lab has previously shown that knockout of Specc1l in mice with gene trap alleles results in early embryonic lethality with defects in neural tube closure and neural crest cell delamination, as well as reduced PI3K-AKT signaling. However, the early lethality phenotype rendered these models incapable of recapitulating the human anomalies. To validate a role for SPECC1L in palatogenesis, we generated additional gene trap and truncation mutant Specc1l alleles. Specc1lgenetrap/truncation compound heterozygote embryos survive to the perinatal period, allowing analysis at later developmental stages. -
The Novel Use of Nuss Bars for Reconstruction of a Massive Flail Chest
BRIEF TECHNIQUE REPORTS The novel use of Nuss bars for reconstruction of a massive flail chest Paul E. Pacheco, MD,a Alex R. Orem, BA,a Ravindra K. Vegunta, MD, FACS,a,b Richard C. Anderson, MD, FACS,a,b and Richard H. Pearl, MD, FACS,a,b Peoria, Ill We present the case of a patient who sustained a massive flail chest from a snowmobile accident. All ribs of the right side of the chest were fractured. Nonoperative management was unsuccessful. Previously reported methods of rib stabiliza- tion were precluded given the lack of stable chest wall ele- ments to fixate or anchor the flail segments. We present a novel surgical treatment in which Nuss bars can be used for stabilization of the most severe flail chest injuries, when reconstruction of the chest is necessary and fixation of fractured segments is infeasible owing to adjacent chest wall instability. CLINICAL SUMMARY The patient was a 40-year-old male snowmobile driver who was hit by a train. Evaluation revealed severe multiple right-sided rib fractures, right scapular and clavicular frac- tures, and a left femur fracture. A thoracostomy tube was placed and intubation with mechanical ventilation instituted. With stability, he was taken for intramedullary nailing of the femur. Despite conventional efforts, he was unable to be weaned from the ventilator inasmuch as he consistently FIGURE 1. Posterior view of 3-dimensional computed tomographic scan had hypercapnic respiratory failure with weaning trials. Ad- showing reconstruction of massive flail chest used during preoperative ditionally, a worsening pneumonia developed on the side of planning. -
The Minimally Invasive Nuss Technique for Recurrent Or Failed Pectus Excavatum Repair in 50 Patients
Journal of Pediatric Surgery (2005) 40, 181–187 www.elsevier.com/locate/jpedsurg The minimally invasive Nuss technique for recurrent or failed pectus excavatum repair in 50 patients Daniel P. Croitorua,*, Robert E. Kelly Jrb,c, Michael J. Goretskyb,c, Tina Gustinb, Rebecca Keeverb, Donald Nussb,c aDivision of Pediatric Surgery, Children’s Hospital at Dartmouth, Dartmouth Hitchcock Medical Center, Dartmouth Medical School, Lebanon, NH 03766 bDivision of Pediatric Surgery, Children’s Hospital of the King’s Daughter, Norfolk, VA 23507 cDepartment of Surgery, Eastern Virginia Medical School, Norfolk, VA Index words: Abstract Pectus excavatum; Purpose: The aim of this study was to demonstrate the efficacy of the minimally invasive technique for Minimally invasive; recurrent pectus excavatum. Recurrence; Methods: Fifty patients with recurrent pectus excavatum underwent a secondary repair using the Reoperative surgery minimally invasive technique. Data were reviewed for preoperative symptomatology, surgical data, and postoperative results. Results: Prior repairs included 27 open Ravitch procedures, 23 minimally invasive (Nuss) procedures, and 2 Leonard procedures. The prior Leonard patients were also prior Ravitches and are therefore counted only once in the analyses. The median age was 16.0 years (range, 3-25 years). The median computed tomography index was 5.3 (range, 2.9-20). Presenting symptoms included shortness of breath (80%), chest pain (70%), asthma or asthma symptoms (26%), and frequent upper respiratory tract infections (14%). Both computed tomography scan and physical exam confirmed cardiac compression and cardiac displacement. Cardiology evaluations confirmed cardiac compression (62%), cardiac displacement (72%), mitral valve prolapse (22%), murmurs (24%), and other cardiac abnormalities (30%). Preoperative pulmonary function tests demonstrated values below 80% normal in more than 50% of patients. -
Diminished Pulmonary Function in Pectus Excavatum: from Denying the Problem to Finding the Mechanism
Featured Article Diminished pulmonary function in pectus excavatum: from denying the problem to finding the mechanism Robert E. Kelly Jr, Robert J. Obermeyer, Donald Nuss Departments of Surgery and Pediatrics, Children’s Hospital of The King’s Daughters, Eastern Virginia Medical School, Norfolk, Virginia, USA Correspondence to: Robert E. Kelly, Jr., MD, Surgeon-in-Chief. Children’s Hospital of The King’s Daughters, 601 Children’s Lane, Ste. 5B, Norfolk, Virginia, USA. Email: [email protected]; [email protected]. Background: Recently, technical improvement in the ability to measure lung function and the severity of chest deformity have enabled progress in understanding the mechanism of limitations of lung function in pectus excavatum. Methods: After establishing that most patients with pectus excavatum do have symptoms of exercise intolerance, easy fatigability, and shortness of breath with exertion, lung function has been evaluated by a variety of methods in different centers. Spirometry, plethysmography, exercise testing, oculo electronic plethysmography, and imaging methods have been used to assess lung function in pectus excavatum and its response to surgery. Results: Not all patients with pectus excavatum have subnormal static pulmonary function testing; some have above-average values. However, in more than 1500 adult and pediatric surgical patients with anatomically severe pectus excavatum at a single center, the bell curve of FVC, FEV1, and FEF 25- 75 is shifted to significantly lower values in pectus excavatum. The curve is shifted to higher values after operation by approximately one standard deviation. Previous work has demonstrated that patients with more anatomically severe pectus excavatum are more likely to have diminished PFT’s. -
Chest Wall Hypoplasia - Principles and Treatment
Paediatric Respiratory Reviews 16 (2015) 30–34 Contents lists available at ScienceDirect Paediatric Respiratory Reviews Mini-symposium: Chest Wall Disease Chest Wall Hypoplasia - Principles and Treatment Oscar Henry Mayer * Associate Professor of Clinical Pediatrics, Perelman School of Medicine at The University of Pennsylvania, Division of Pulmonary Medicine, The Children’s Hospital of Philadelphia, 3501 Civic Center Boulevard, Philadelphia, PA 19104 EDUCATIONAL AIMS Understand the significance of chest wall and spine growth on lung growth and respiration. Understand how abnormal spine growth can cause chest wall hypoplasia and the treatment options available. Understand how abnormal lateral chest wall growth can impact lung development and the options for therapy. A R T I C L E I N F O S U M M A R Y Keywords: The chest is a dynamic structure. For normal movement it relies on a coordinated movement of the Chest wall hypoplasia multiple bones, joints and muscles of the respiratory system. While muscle weakness can have clear Jeune Syndrome impact on respiration by decreasing respiratory motion, so can conditions that cause chest wall Jarcho-Levin Syndrome hypoplasia and produce an immobile chest wall. These conditions, such as Jarcho-Levin and Jeune Spondylocostal dysostosis syndrome, present significantly different challenges than those faced with early onset scoliosis in which Spondylothoracic dysplasia chest wall mechanics and thoracic volume may be much closer to normal. Because of this difference more aggressive approaches to clinical and surgical management are necessary. ß 2014 Elsevier Ltd. All rights reserved. abnormal or asymmetric growth in even a small number these can INTRODUCTION cause non-syndromic early onset scoliosis (EOS) [1]. -
Pectus Correction Surgery Information for Patients Introduction This Booklet Is Designed to Provide Information About Your Forthcoming Pectus Correction Surgery
Oxford University Hospitals NHS Trust Oxford Heart & Lung Centre Pectus Correction surgery Information for patients Introduction This booklet is designed to provide information about your forthcoming pectus correction surgery. We appreciate that coming into hospital for pectus correction surgery may be a major event for you. The Information in this booklet will hopefully allay some of the fears and apprehensions you may have and increase your understanding of what to expect during your stay in the Oxford Heart Centre, at the John Radcliffe Hospital. Our aim is to provide a high quality service to our patients. We would therefore welcome any suggestions you may have. A patient satisfaction survey can be found in the information folder by every bed on the Cardiothoracic Unit, alternatively please speak to a member of the senior nursing team. page 2 Modified Ravitch procedure In the modified Ravitch procedure, the rib cartilages are cut away on each side and the sternum is flattened so that it will lie flat. One or more bars (or struts) may then be inserted under the sternum to ensure it keeps its shape. This is the procedure we use for complex pectus anomalies, predominantly rib deformities and for pectus carinatum. The operation involves making a horizontal cut from one side of the chest to the other. Drains are inserted on each side of the chest to remove any fluid from the surgical site and the wound is closed using dissolvable stitches. If a strut is inserted it is intended to remain in place permanently but may be removed if it causes pain or other problems. -
Orphanet Report Series Rare Diseases Collection
Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic -
Pentalogy of Cantrell Sally DE Mohmmed1, Nadia Elrayah2, Helmi Noor3, Badreldeen Ahmed4
CASE REPORT Pentalogy of Cantrell Sally DE Mohmmed1, Nadia Elrayah2, Helmi Noor3, Badreldeen Ahmed4 Keywords: Cantrell, Pentalogy of Cantrell, Pentalogy Donald School Journal of Ultrasound in Obstetrics and Gynecology (2019): 10.5005/jp-journals-10009-1591 This is a 24-year-old primigravida patient married to her first cousin. 1–3 The patient was referred from a rural hospital to the Ian Donald University of Medical Science and Technology, Khartoum, Sudan 4 teaching center in Khartoum for the second opinion and for further University of Medical Science and Technology, Khartoum, Sudan; Weill management. The indication for referral was suspected abnormal Medical College, Doha, Qatar; Qatar University-Medical School, Doha, fetus at 29 weeks. We did not have the full record of early pregnancy. Qatar; Feto-Maternal Center, Doha, Qatar At the Ian Donald teaching center, the ultrasound examination Corresponding Author: Badreldeen Ahmed, University of Medical revealed the following: the estimated fetal weight was found to be Science and Technology, Khartoum, Sudan; Weill Cornell Medical below the 10th centile. There was a marked polyhydramnios, and the College; Feto-Maternal Centre, Doha, Qatar, Phone: +974 55845583, e-mail: [email protected] deepest vertical pool measured 12 cm. The anterior abdominal was absent with protrusion of stomach, small bowel, and the liver (Fig. 1). How to cite this article: Mohmmed SDE, Elrayah N, et al. Pentalogy of Cantrell. Donald School J Ultrasound Obstet Gynecol 2019;13(2):83–84. Source of support: Nil Conflict of interest: None The thoracic wall was open with the fetal heart completely outside the chest. The diaphragm could not be visualized. -
Pectus Excavatum (Nuss) V2.0
Pectus Excavatum (Nuss) v2.0 Summary of Version Changes Explanation of Evidence Ratings Inclusion Criteria · Patient age 13 years to adult with Pectus Approval and Citation Excavatum requiring repair Exclusion Criteria · None Intraoperative Management Anesthesia and pain management Safety Precautions Standard anesthesia procedures · · Sternal saw available and open on the field to assure proper · Ketorolac IV at end of case function · Standard PACU orders Intraoperative Pain Management Infection prevention · Cryoablation to 2 nerves above and below bar entry level on · Double glove each side · Ioban drape ® · Bupivacaine 0.5% (2mL per nerve) 2 nerves above and below · Irrigate wounds with Betadine solution bar entry level on each side · Perioperative antibiotics Other · Cefazolin · Dictation must clearly state number of bars and which side · Clindamycin if allergic stabilizer is placed · Vancomycin if MRSA · Write General Surgery Pectus Repair Plan admit orders Thrombosis prevention prior to patient transfer out of the O.R. · Sequential compression device (SCD) if age 16 years or older, prior to induction Postoperative Management Admit to surgical floor from PACU Medications · Chest X-ray in PACU to assess for pneumothorax · Continue perioperative antibiotics x 2 doses Activity Pain · Showering ok on POD1 · POD1 or 2: start oral pain medicines. · POD1 out of bed to chair and ambulate goal is 3-4 times per day in · Oxycodone short acting (no long-acting), as needed halls, minimum of 2 times per day (bathroom does not count) · Acetaminophen/ibuprofen -
Cosmetic and Reconstructive Procedures Corporate Medical Policy
Cosmetic and Reconstructive Procedures Corporate Medical Policy File Name: Cosmetic and Reconstructive Procedures File Code: UM.SURG.02 Origination: 06/2016 Last Review: 01/2020 Next Review: 01/2021 Effective Date: 04/01/2020 Description/Summary The term, “cosmetic and reconstructive procedures” includes procedures ranging from purely cosmetic to purely reconstructive. Benefit application has the potential to be confusing to members because there is an area of overlap where cosmetic procedures may have a reconstructive component and reconstructive procedures may have a cosmetic component. These procedures are categorized and benefits are authorized based upon the fundamental purpose of the procedure. The American Medical Association and the American Society of Plastic Surgeons have agreed upon the following definitions: • Cosmetic procedures are those that are performed to reshape normal structures of the body in order to improve the patient’s appearance and self- esteem. • Reconstructive procedures are those procedures performed on abnormal structures of the body, caused by congenital defects, developmental abnormalities, trauma, infection, tumors or disease. It is generally performed to improve function but may also be done to approximate a normal appearance. In order to be considered medically necessary, the goal of reconstructive surgery must be to correct an abnormality in order to restore physiological function to the extent possible. As such, for reconstructive surgery to be considered medically necessary there must be a reasonable -
Anesthesic and Pain Management Considerations for the Nuss Procedure
Anesthesic and Pain Management Considerations for the Nuss Procedure Lynne G. Maxwell, MD, FAAP Pectus Excavatum Pectus excavatum (PE) is a relatively common deformity of the chest wall, occurring in approximately 1 in 300 births. Although it is often referred to as a congential abnormality, many children do not have obvious manifestations until age 1 or older. It occurs more often in males in a ratio of 4:1. In some cases there is a genetic component with some evidence of autosomal dominance with male to male transmission. Although the development of PE may be related to upper airway obstruction and/or sleep apnea (OSAS) and disorders of connective tissue such as Marfan syndrome, most patients with PE have no associated medical conditions. Pectus excavatum has been recognized for centuries. Bauhinus described a patient in 1594 with pulmonary insufficiency (dyspnea and paroxysmal cough) associated with a severe pectus excavatum. Multiple case reports were decribed in the 19th century, including one by Ebstein in 1882 describing 4 patients. Treatment consisted of “fresh air, breathing exercises, aerobic activities, and lateral pressure.” Thoracic surgical approaches were developed in the early part of the 20th century, but it wasn’t until mid- century that Ravitch reported the technique which became the standard prior to the advent of the Nuss procedure. The Ravitch operation involved a mobilization of the sternum by resection of the costal cartilages bilaterally and sternal osteotmy. A modification involving the placement of a bar through the distal end of the sternum was reported in 1956 by Wallgren and Sulamaa which prevented the recurrence of the deformity.