Chest Wall Clinic
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Challenges in Long-Term Control of Hypercalcaemia with Denosumab
Taylor-Miller, T., Sivaprakasam, P., Smithson, S. F., Steward, C. G., & Burren, C. P. (2021). Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis. Bone reports, 14, 100738. [100738]. https://doi.org/10.1016/j.bonr.2020.100738 Publisher's PDF, also known as Version of record License (if available): CC BY-NC-ND Link to published version (if available): 10.1016/j.bonr.2020.100738 Link to publication record in Explore Bristol Research PDF-document This is the final published version of the article (version of record). It first appeared online via Elsevier at https://doi.org/10.1016/j.bonr.2020.100738. Please refer to any applicable terms of use of the publisher. University of Bristol - Explore Bristol Research General rights This document is made available in accordance with publisher policies. Please cite only the published version using the reference above. Full terms of use are available: http://www.bristol.ac.uk/red/research-policy/pure/user-guides/ebr-terms/ Bone Reports 14 (2021) 100738 Contents lists available at ScienceDirect Bone Reports journal homepage: www.elsevier.com/locate/bonr Case Report Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis Tashunka Taylor-Miller a, Ponni Sivaprakasam b, Sarah F. Smithson c,d, Colin G. Steward d,e, Christine P. Burren a,d,* a Department of Paediatric -
REGROUPI NG Congenital & Pediatric
REGROUPI NG 2 Congenital & Ped iatric CONGENITAL & PAEDIATRIC 18.02.05 Preamble - Objectives and Outcomes ALSO SEE OVERALL PREAMBLE (hypertext link on webpage) Many children and young adults experience congenital health problems which require plastic and/or reconstructive surgery to enable them to function normally. To be effective in this area a surgeon requires technical skill, medical expertise and the capacity to respond effectively to their patients' needs and expectations" The graduating trainee will be able to: • Consistently demonstrate sound surgical skills • Maintain skills and learn new skills • Effectively manage complications • Manage complexity and uncertainty • Appraise and interpret plain radiographs, CT and MRI against patients' needs • Communicate information to patients (and their fa mily) about procedures, potentialities and risks associated with surgery in ways that encourage their participation in informed decision making • Develop a care plan for a patient in collaboration with members of an interdisciplinary team • Promote health maintenance • Draw on different kinds of knowledge in order to weigh up patient's problems in terms of context, issues, needs and consequences For Recommended Reading, Delivery and Assessment see the module fo r each body zone Revisional Knowledge following on from that gained from the PRS Science and Principles Module trainees are required to be able to analyse and appropriately apply the science and principles of the following in clinical environments : Craniomaxillofacial Cra niomaxillofacial embryology, anatomy, genetics • Pathogenesis of craniofacial clefts and their classification • Perioperative management of neurosurgical/orbital surgical/major facial surgical patients (including paediatric) Trunk, Perineum & Breast Embryology • Urogenital embryology - male, female, androgenic influence • Breast embryology Congenital Defects and their cla ssification • Spina bifida • Gastroschisis, omphalocele, Prune-belly • Pectus excavatum, pectus carinatum, Poland syndrome . -
[email protected] Patient Information Patient Name (Last, First, Middle) Birth Date (Mm-Dd-Yyyy) Sex Male Female
Marfan and Related Disorders Patient Information Instructions: The accurate interpretation and reporting of the genetic results is contingent upon the reason for referral, clinical information, ethnic background, and family history. To help provide the best possible service, supply the information requested below and send paperwork with the specimen, or return by fax to Mayo Clinic Laboratories, Attn: Personalized Genomics Laboratory Genetic Counselors at 507-284-1759. Phone: 507-266-5700 / International clients: +1-507-266-5700 or email [email protected] Patient Information Patient Name (Last, First, Middle) Birth Date (mm-dd-yyyy) Sex Male Female Referring Provider Name (Last, First) Phone Fax* Other Contact Name (Last, First) Phone Fax* *Fax number given must be from a fax machine that complies with applicable HIPAA regulations. Is this a postmortem specimen? Yes No If yes, attach autopsy report if available. Clinical History Reason for Testing (Check all that apply.) Diagnosis Carrier testing Presymptomatic diagnosis Family history Sudden death Note: Genetic testing should always be initiated on an affected family member first, if possible, in order to be most informative for at-risk relatives. See Ethnic Background and Family History section for more information. Diagnosis/Suspected Diagnosis Marfan Syndrome Ehlers-Danlos Syndrome Loeys-Dietz Syndrome Familial thoracic aortic aneurysm and dissection Other: _______________________________________________________________________________________________ Indicate whether the following -
Sotos Syndrome
European Journal of Human Genetics (2007) 15, 264–271 & 2007 Nature Publishing Group All rights reserved 1018-4813/07 $30.00 www.nature.com/ejhg PRACTICAL GENETICS In association with Sotos syndrome Sotos syndrome is an autosomal dominant condition characterised by a distinctive facial appearance, learning disability and overgrowth resulting in tall stature and macrocephaly. In 2002, Sotos syndrome was shown to be caused by mutations and deletions of NSD1, which encodes a histone methyltransferase implicated in chromatin regulation. More recently, the NSD1 mutational spectrum has been defined, the phenotype of Sotos syndrome clarified and diagnostic and management guidelines developed. Introduction In brief Sotos syndrome was first described in 1964 by Juan Sotos Sotos syndrome is characterised by a distinctive facial and the major diagnostic criteria of a distinctive facial appearance, learning disability and childhood over- appearance, childhood overgrowth and learning disability growth. were established in 1994 by Cole and Hughes.1,2 In 2002, Sotos syndrome is associated with cardiac anomalies, cloning of the breakpoints of a de novo t(5;8)(q35;q24.1) renal anomalies, seizures and/or scoliosis in B25% of translocation in a child with Sotos syndrome led to the cases and a broad variety of additional features occur discovery that Sotos syndrome is caused by haploinsuffi- less frequently. ciency of the Nuclear receptor Set Domain containing NSD1 abnormalities, such as truncating mutations, protein 1 gene, NSD1.3 Subsequently, extensive analyses of missense mutations in functional domains, partial overgrowth cases have shown that intragenic NSD1 muta- gene deletions and 5q35 microdeletions encompass- tions and 5q35 microdeletions encompassing NSD1 cause ing NSD1, are identifiable in the majority (490%) of 490% of Sotos syndrome cases.4–10 In addition, NSD1 Sotos syndrome cases. -
Acropectorovertebral Dysgenesis (F Syndrome)
213 LETTER TO JMG J Med Genet: first published as 10.1136/jmg.2003.014894 on 1 March 2004. Downloaded from Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36 H Thiele, C McCann, S van’t Padje, G C Schwabe, H C Hennies, G Camera, J Opitz, R Laxova, S Mundlos, P Nu¨rnberg ............................................................................................................................... J Med Genet 2004;41:213–218. doi: 10.1136/jmg.2003.014894 he F form of acropectorovertebral dysgenesis, also called F syndrome, is a rare dominantly inherited fully Key points Tpenetrant skeletal disorder.1 The name of the syndrome is derived from the first letter of the surname of the family in N Acropectorovertebral dysgenesis, also called F syn- which it was originally described. Major anomalies include drome, is a unique skeletal malformation syndrome, carpal synostoses, malformation of first and second fingers originally described in a four generation American with frequent syndactyly between these digits, hypoplasia family of European origin.1 The dominantly inherited and dysgenesis of metatarsal bones with invariable synostosis disorder is characterised by carpal and tarsal synos- of the proximal portions of the fourth and fifth metatarsals, toses, syndactyly between the first and the second variable degrees of duplication of distal portions of preaxial fingers, hypodactyly and polydactyly of feet, and toes, extensive webbing between adjacent toes, prominence abnormalities of the sternum and spine. of the sternum with variable pectus excavatum and spina bifida occulta of L3 or S1. Affected individuals also have N We have mapped F syndrome in the original family minor craniofacial anomalies and moderate impairment of and were able to localise the gene for F syndrome to a performance on psychometric tests.3 6.5 cM region on chromosome 2q36 with a maximum Two families have been reported to date. -
Spontaneous Pneumothorax Can Be Associated with TGFBR2 Mutation
ERJ Express. Published on October 22, 2015 as doi: 10.1183/13993003.00952-2015 LETTER IN PRESS | CORRECTED PROOF Spontaneous pneumothorax can be associated with TGFBR2 mutation To the Editor: Primary pneumothorax affects 0.01% of the population. 10% of cases have a family history of pneumothorax but in the majority, a definitive genetic diagnosis is not made. We report a 26-year-old, white British woman who presented with left apical pneumothorax (figure 1a). Previously, she had migraines, multiple stress fractures in her right foot, myopia, easy bruising, lumbar scoliosis and spontaneous dislocation of the right patella. She had no previous history of pneumothoraces or any other respiratory problems, and had never smoked. On examination, she was hypermobile (Beighton score 7/9), and had facial milia, translucent hyperextensible skin, striae over her back, chest wall asymmetry, bilateral varicose veins and pes planus. Her uvula was bifid (figure 1b), she had a high arched palate with dental crowding and her arm span/ height ratio was increased (1.14). In the ophthalmology clinic, lattice dystrophy (weakness in the peripheral retina predisposing to retinal detachment) was identified with no ocular features of Marfan syndrome. The patient’s thoracic computed tomography (CT) revealed apical blebs, and her echocardiogram and CT showed aortic root dilatation (3.54 cm, Z-score >2) (figure 1c and d). Her 59-year-old mother, who had not suffered pneumothoraces, was reviewed and found to have mild features of a connective tissue disorder: skin hyperextensibility, joint hypermobility with a Beighton scale score of 5/9, a high-arched palate, mild thoracic kyphosis, easy bruising, recurrent left shoulder dislocation, hiatus hernia, stress incontinence and stress fractures of the left foot. -
The Effect of Minimally Invasive Pectus Excavatum Repair on Thoracic Scoliosis
European Journal of Cardio-Thoracic Surgery 59 (2021) 375–381 ORIGINAL ARTICLE doi:10.1093/ejcts/ezaa328 Advance Access publication 30 October 2020 Cite this article as: Is¸can_ M, Kılıc¸ B, Turna A, Kaynak MK. The effect of minimally invasive pectus excavatum repair on thoracic scoliosis. Eur J Cardiothorac Surg 2021;59:375–81. The effect of minimally invasive pectus excavatum repair on thoracic scoliosis Mehlika Is¸can_ a,*, Burcu Kılıc¸b, Akif Turna b and Mehmet Kamil Kaynak b a Department of Thoracic Surgery, Gebze Fatih State Hospital, Kocaeli, Turkey b Department of Thoracic Surgery, Istanbul University-Cerrahpas¸a,Cerrahpas¸aSchool of Medicine, Istanbul, Turkey Downloaded from https://academic.oup.com/ejcts/article/59/2/375/5943430 by guest on 29 September 2021 * Corresponding author. Department of Thoracic Surgery, Gebze Fatih State Hospital, 41400 Gebze - Kocaeli, Turkey. Tel: +90-543-6609334; e-mail: [email protected] (M. Is¸can)._ Received 13 March 2020; received in revised form 17 July 2020; accepted 23 July 2020 THORACIC Abstract OBJECTIVES: The Nuss technique comprises the placement of an intrathoracic bar behind the sternum. However, besides improving the body posture through the correction of the pectus excavatum (PE), this procedure may cause or worsen thoracic scoliosis as a result of the considerable stress loaded on the chest wall and the thorax. Our goal was to investigate the impact of the Nuss procedure on the thoracic spinal curvature in patients with PE. METHODS: A total of 100 patients with PE who underwent the Nuss procedure were included in the study and evaluated retrospectively. -
Chest Wall Abnormalities and Their Clinical Significance in Childhood
Paediatric Respiratory Reviews 15 (2014) 246–255 Contents lists available at ScienceDirect Paediatric Respiratory Reviews CME article Chest Wall Abnormalities and their Clinical Significance in Childhood Anastassios C. Koumbourlis M.D. M.P.H.* Professor of Pediatrics, George Washington University, Chief, Pulmonary & Sleep Medicine, Children’s National Medical Center EDUCATIONAL AIMS 1. The reader will become familiar with the anatomy and physiology of the thorax 2. The reader will learn how the chest wall abnormalities affect the intrathoracic organs 3. The reader will learn the indications for surgical repair of chest wall abnormalities 4. The reader will become familiar with the controversies surrounding the outcomes of the VEPTR technique A R T I C L E I N F O S U M M A R Y Keywords: The thorax consists of the rib cage and the respiratory muscles. It houses and protects the various Thoracic cage intrathoracic organs such as the lungs, heart, vessels, esophagus, nerves etc. It also serves as the so-called Scoliosis ‘‘respiratory pump’’ that generates the movement of air into the lungs while it prevents their total collapse Pectus Excavatum during exhalation. In order to be performed these functions depend on the structural and functional Jeune Syndrome VEPTR integrity of the rib cage and of the respiratory muscles. Any condition (congenital or acquired) that may affect either one of these components is going to have serious implications on the function of the other. Furthermore, when these abnormalities occur early in life, they may affect the growth of the lungs themselves. The followingarticlereviewsthe physiology of the respiratory pump, providesa comprehensive list of conditions that affect the thorax and describes their effect(s) on lung growth and function. -
Shprintzen-Goldberg Syndrome
Shprintzen-Goldberg syndrome Description Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. Affected individuals have a combination of distinctive facial features and skeletal and neurological abnormalities. A common feature in people with Shprintzen-Goldberg syndrome is craniosynostosis, which is the premature fusion of certain skull bones. This early fusion prevents the skull from growing normally. Affected individuals can also have distinctive facial features, including a long, narrow head; widely spaced eyes (hypertelorism); protruding eyes ( exophthalmos); outside corners of the eyes that point downward (downslanting palpebral fissures); a high, narrow palate; a small lower jaw (micrognathia); and low-set ears that are rotated backward. People with Shprintzen-Goldberg syndrome are often said to have a marfanoid habitus, because their bodies resemble those of people with a genetic condition called Marfan syndrome. For example, they may have long, slender fingers (arachnodactyly), unusually long limbs, a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and an abnormal side-to-side curvature of the spine (scoliosis). People with Shprintzen-Goldberg syndrome can have other skeletal abnormalities, such as one or more fingers that are permanently bent (camptodactyly) and an unusually large range of joint movement (hypermobility). People with Shprintzen-Goldberg syndrome often have delayed development and mild to moderate intellectual disability. Other common features of Shprintzen-Goldberg syndrome include heart or brain abnormalities, weak muscle tone (hypotonia) in infancy, and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Shprintzen-Goldberg syndrome has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. -
323: Pectus Carinatum: Pigeon Chest
Pectus Carinatum: Pigeon Chest byTracy Nydia Cheek Morales, cst Pectus carinatum is a deformity of the chest wall distinguished by a protuberant sternum and rib cage. It is caused by congenital and genetic abnormalities found in pediatric patients. This unusual deformity can have both physiological consequences and signifi- cant psychological impacts on the untreated patient. P ATIENT C ASE S TUDY The patient is a 13-year old Caucasian male who presented with LEARNING ObJectiVes a protuberant sternum and characteristic pectus carinatum. The chest wall deformity has slowly been increasing in prominence ▲ Review the relevant anatomy and distortion over time as the patient has grown, causing dis- for this procedure comfort and pain on occasion. The patient was experiencing bouts of fatigue and dyspnea (shortness of breath) during physi- ▲ Examine the set-up and surgical cal activity, which became more frequent in the last year. The positioning for this procedure young man recently expressed concerns to his parents that he felt his chest deformity was hindering him from normal physical ▲ Compare and contrast the various activities at school, and that he felt self-conscious of his appear- genetic disorders that may cause ance, particularly around his peers. The patient’s parents noted pectus carinatum that he was beginning to isolate himself from both friends and family and showing signs of depression. They articulated that, at ▲ Evaluate the step-by-step procedure for this point, the primarily concern with their son was his emotional surgical correction of pectus carinatum state of mind, and that it was directly related to the cosmetic appearance of his chest wall deformity. -
Current Management of Pectus Excavatum: a Review and Update of Therapy and Treatment Recommendations
J Am Board Fam Med: first published as 10.3122/jabfm.2010.02.090234 on 5 March 2010. Downloaded from CLINICAL REVIEWS Current Management of Pectus Excavatum: A Review and Update of Therapy and Treatment Recommendations Dawn Jaroszewski, MD, David Notrica, MD, Lisa McMahon, MD, D. Eric Steidley, MD, and Claude Deschamps, MD Pectus excavatum (PE) is a posterior depression of the sternum and adjacent costal cartilages and is frequently seen by primary care providers. PE accounts for >90% of congenital chest wall deformities. Patients with PE are often dismissed by physicians as having an inconsequential problem; however, it can be more than a cosmetic deformity. Severe cases can cause cardiopulmonary impairment and physi- ologic limitations. Evidence continues to present that these physiologic impairments may worsen as the patient ages. Data reports improved cardiopulmonary function after repair and marked improvement in psychosocial function. More recent consensus by both the pediatric and thoracic surgical communities validates surgical repair of the significant PE and contradicts arguments that repair is primarily cos- metic. We performed a review of the current literature and treatment recommendations for patients with PE deformities. (J Am Board Fam Med 2010;23:230–239.) Keywords: Pectus Excavatum, Chest Wall Deformities, Congenital Defects, Cardiovascular Disorders, Musculoskel- etal and Connective Tissue, Review copyright. Pectus chest deformities are among the most com- netic link has not been identified.4,6–8 Disturbances mon major congenital anomalies found in patients in the growth of the sternum and costal arches, as in the United States. They occur in approximately well as biomechanical factors, are suspected in the 1 of every 300 to 400 white male births.1–3 Men are pathogenesis.1,2,4,6,9–11 The involved cartilages can afflicted 5 times more often than women.2,4 The be fused, deformed, or rotated. -
PE540 Pectus Excavatum
Patient and Family Education Pectus Excavatum What is pectus excavatum? Pectus excavatum (peck-tuss ex-kuh-vaw-tum) is a breastbone (sternum) and rib cartilage deformity that results in a dent in the chest. It is also called “sunken” or “funnel” chest. Most of the time, this indentation is in the lower half of the sternum, and can range from mild to severe. The sternum may press on the heart and lungs. Some defects cause no symptoms but can affect your child’s body image. What causes pectus excavatum? The cause is unknown. The cartilage that attaches the ribs to the sternum seems to grow abnormally and pushes the sternum in. This causes the sunken look. Pectus excavatum can run in families, but often only one person in a family is affected. It may be seen during infancy or may first be noticed later in life. The dent becomes more noticeable as your child grows, especially during growth spurts. Why might my child need surgery? Surgery for pectus excavatum is done for medical reasons. Children with moderate to severe defects can have shortness of breath, chest pain, and trouble breathing when exercising. These symptoms can be from the heart and lungs being pushed on and shifted inside the chest. Surgery to correct pectus excavatum is usually done when the child is a teenager. Pectus excavatum does not cause life threatening lung or heart conditions in children by itself. What kind of tests might my child need? If the defect is moderate to severe and your child has some or all of the symptoms listed above, your surgeon will order tests to assess heart and lung function.