Association Between Spinal Curvature Disorders and Injury: a Nationwide Population-Based Retrospective Cohort Study

Total Page:16

File Type:pdf, Size:1020Kb

Association Between Spinal Curvature Disorders and Injury: a Nationwide Population-Based Retrospective Cohort Study Open access Research BMJ Open: first published as 10.1136/bmjopen-2018-023604 on 17 January 2019. Downloaded from Association between spinal curvature disorders and injury: a nationwide population-based retrospective cohort study Yen-Liang Kuo,1,2,3 Chi-Hsiang Chung,4,5 Tsai-Wang Huang,6 Chang-Huei Tsao,7,8 Shan-Yueh Chang,3 Chung-Kan Peng,3 Wei-Erh Cheng,1,2 Wu-Chien Chien,5,8 Chih-Hao Shen3 To cite: Kuo Y-L, Chung C-H, ABSTRACT Strengths and limitations of this study Huang T-W, et al. Association Objectives Injury is an important issue in public health. Spinal between spinal curvature curvature disorders are deformities characterised by excessive ► This is the first nationwide population-based cohort disorders and injury: a curves of the spine. The prevalence of spinal curvature nationwide population- study to assess the associations between spinal disorders is not low, but its relationship with injury has not based retrospective curvature and injury. been studied. The aim of this study is to investigate whether cohort study. BMJ Open ► The main strengths of this study are the large pop- spinal curvature disorders increase the risk of injury. 2019;9:e023604. doi:10.1136/ ulation-based dataset and the retrospective cohort Design Population-based retrospective cohort study. bmjopen-2018-023604 design, which minimise selection bias. Setting Using data from the Taiwan National Health Insurance ► This study cohort is large enough to examine each ► Prepublication history for Research Database from 2000 to 2010. this paper is available online. risks of injury among subgroups. Participants and exposure Patients with spinal curvature To view these files, please visit ► The limitation of this study is the lack of informa- disorders were selected using codes from the International the journal online (http:// dx. doi. tion on the severity of spinal curvature disorders, Classification of Diseases, Ninth Revision, Clinical Modification. org/ 10. 1136/ bmjopen- 2018- detailed patient characteristics and injury severity. 023604). A cohort without spinal curvature was randomly frequency- matched to the spinal curvature disorders cohort at a ratio of W-CC and C-HS contributed 2:1 according to age, sex and index year. equally. Primary outcome measures The risk of injury was gravity. Kyphosis is a convex curvature of analysed using Cox’s proportional hazards regression models the spine that creates a hunchback appear- http://bmjopen.bmj.com/ Received 14 April 2018 adjusting for age, sex, comorbidities, urbanisation level and Revised 26 July 2018 ance. Lordosis refers to the inward concave Accepted 28 November 2018 socioeconomic status. curving of the cervical and lumbar regions Results A total of 20 566 patients with spinal curvature of the spine.1 2 When disorders of the spine disorders and 41 132 controls were enrolled in this study. occur, the natural curvatures of the spine are The risk of injury was 2.209 times higher (95% CI 2.118 to misaligned or exaggerated in certain areas. 2.303) in patients with spinal curvature disorders than in the Possible spinal curvature disorders include control group. The spinal curvature disorders cohort exhibited higher risk of developing injury compared with the control scoliosis, hyperkyphosis and hyperlordosis, which can be graded in severity by the Cobb on September 28, 2021 by guest. Protected copyright. group, regardless of age, sex, comorbidities, urbanisation 3 level and subgroup of spinal curvature disorders. Based on angle. Scoliosis indicates a lateral displace- 4 the subgroup analysis, the spinal curvature disorders cohort ment or curvature of the spine, which is had higher risks of unintentional injury and injury diagnoses defined by a curve in the spine with a Cobb such as fracture, dislocation, open wound, superficial injury/ angle of 10° or greater in adults.5 Hyper- contusion, crushing and injury to nerves and spinal cord kyphosis and hyperlordosis are commonly compared with the control cohort. referred to as kyphosis and lordosis by the Conclusions Patients with spinal curvature disorders have medical community. The evaluation of these © Author(s) (or their a significantly higher risk of developing injury than patients conditions is challenging due to the lack without spinal curvature disorders. Aggressive detection and employer(s)) 2019. Re-use of standardised diagnostic criteria. Gener- permitted under CC BY-NC. No management of spinal curvature disorders may be beneficial commercial re-use. See rights for injury prevention. ally, the Cobb angle of a normal thoracic and permissions. Published by spine ranges between 20° and 50° in young BMJ. people.1 6 For numbered affiliations see INTRODUCTIOn Among community-dwelling individ- end of article. The spine has a gentle curve when viewed uals ≥60 years old, the current incidence of 7–9 Correspondence to from the side and a straight appearance hyperkyphosis is between 20% and 40%. Dr Chih-Hao Shen; when viewed from the back. This structure There are multiple contributing factors to potato652@ yahoo. com. tw absorbs the stress from body movement and spinal curvature disorders, such as vertebral Kuo Y-L, et al. BMJ Open 2019;9:e023604. doi:10.1136/bmjopen-2018-023604 1 Open access BMJ Open: first published as 10.1136/bmjopen-2018-023604 on 17 January 2019. Downloaded from fractures with low bone density,10–12 short vertebral height and injury. We conducted a nationwide population-based as in Scheuermann’s disease,13 degenerative disc disease,14 cohort study to investigate whether spinal curvature disor- postural changes,15–18 muscle weakness,15 19–23 interver- ders increases the risk of injury. tebral ligament degeneration24 and systemic physical activity practice.25–28 Injury is an important issue in public health,29 espe- MATERIALS AND METHODS cially among the elderly.30 Injuries can be divided into Data sources several types according to various factors, such as injury Taiwan’s NHIRD has been built since Taiwan established diagnosis, cause of injury or intentionality of injury a universal healthcare system in 1995. This database according to the National Health Insurance Research includes the medical records of the Taiwanese popula- 31 Database (NHIRD) of Taiwan. The occurrence of injury tion of around 23.81 million, and the coverage reached influences the capacity for activity and can cause compli- 99.6% in 2016. In this study, data were collected from the 32–35 cations, economic burden and even mortality. Thus, NHIRD, and 1 000 000 people were randomly and anon- determining the modifiable risks and strategies for the ymously selected from the entire population. The disease prevention or management of injury deserves more clin- diagnosis codes in the NHIRD dossier are based on the ical attention. International Classification of Diseases, Ninth Revision, The potential relationship between spinal curvature Clinical Modification (ICD-9-CM).37 This study was disorders and injury is not precisely known. Sinaki et al approved after a complete ethical review by the Institu- demonstrated that thoracic hyperkyphosis in the context tional Review Board of National Defense Medical Center of reduced muscle strength plays an important role in Tri-Service General Hospital and the informed consent increasing body sway, gait unsteadiness and risk of falls was not necessary. in osteoporosis.23 De Groot et al suggest that patients with flexed posture (characterised by protrusion of the head Study design and sampled participants and increased thoracic kyphosis) have impaired postural This study was a retrospective cohort design. Patients control during walking and may therefore have higher were selected if they were diagnosed with spinal curvature risk of falling.36 However, no study has described the disorders with three or more outpatient visits and spinal sequential association between spine curvature disorders curvature disorders inpatients from 2 January 2000, to http://bmjopen.bmj.com/ on September 28, 2021 by guest. Protected copyright. Figure 1 The flow chart of study sample selection from Taiwan National Health Insurance Research Database. 2 Kuo Y-L, et al. BMJ Open 2019;9:e023604. doi:10.1136/bmjopen-2018-023604 Open access BMJ Open: first published as 10.1136/bmjopen-2018-023604 on 17 January 2019. Downloaded from programme or the end of 2010. Based on the definition Table 1 Demographic data for patients with and without 31 38 spinal curvature disorders of injury categories from prior studies, the causes of injury were classified as traffic injuries (ICD-9-CM Spinal curvature disorders E800–E849), poisoning (ICD-9-CM E850–E869), falls With Without (ICD-9-CM E880–E888), burns and fires (ICD-9-CM Variables n % n % P value E890–E899), drowning (ICD-9-CM E910), suffocation Total 20 566 33.33 41 132 66.67 (ICD-9-CM E911–E915), crushing/cutting/piercing Gender 0.999 (ICD-9-CM E916–E920) and other unintentional injuries (ICD-9-CM E870–E879, E900–E909, E951–E949). The Male 7279 35.39 14 558 35.39 intentionality categories of injuries include unintentional Female 13 287 64.61 26 574 64.61 (ICD-8-CM E800–R949), intentional (ICD-9-CM E950– Age group (years) 0.999 E979, E990–E999) and unknown. 20–40 3107 15.11 6529 15.87 41–64 6597 32.08 13 386 32.54 Comorbidities Baseline comorbidities include diabetes (ICD-9-CM 250), ≥65 10 862 52.82 21 217 51.58 hypertension (ICD-9-CM 401–405), ischaemic heart No of comorbidities <0.001 disease (ICD-9-CM codes 410–414), stroke (ICD-9-CM 0 12 469 60.63 19 513 47.44 430–438), chronic kidney disease (ICD-9-CM 585), liver 1 6074 29.53 12 021 29.23 cirrhosis (ICD-9-CM 570, 571, 572.1, 572.4, 573.1–573.3), ≥2 2023 9.84 9598 23.33 chronic obstructive lung disease (ICD-9-CM codes 490, Urbanisation level <0.001 491, 495 and 496) and cancer (ICD-9-CM 140–208).
Recommended publications
  • An Unusual Cause of Back Pain in Osteoporosis: Lessons from a Spinal Lesion
    Ann Rheum Dis 1999;58:327–331 327 MASTERCLASS Series editor: John Axford Ann Rheum Dis: first published as 10.1136/ard.58.6.327 on 1 June 1999. Downloaded from An unusual cause of back pain in osteoporosis: lessons from a spinal lesion S Venkatachalam, Elaine Dennison, Madeleine Sampson, Peter Hockey, MIDCawley, Cyrus Cooper Case report A 77 year old woman was admitted with a three month history of worsening back pain, malaise, and anorexia. On direct questioning, she reported that she had suVered from back pain for four years. The thoracolumbar radiograph four years earlier showed T6/7 vertebral collapse, mild scoliosis, and degenerative change of the lumbar spine (fig 1); but other investigations at that time including the eryth- rocyte sedimentation rate (ESR) and protein electophoresis were normal. Bone mineral density then was 0.914 g/cm2 (T score = −2.4) at the lumbar spine, 0.776 g/cm2 (T score = −1.8) at the right femoral neck and 0.738 g/cm2 (T score = −1.7) at the left femoral neck. She was given cyclical etidronate after this vertebral collapse as she had suVered a previous fragility fracture of the left wrist. On admission, she was afebrile, but general examination was remarkable for pallor, dental http://ard.bmj.com/ caries, and cellulitis of the left leg. A pansysto- lic murmur was heard at the cardiac apex on auscultation; there were no other signs of bac- terial endocarditis. She had kyphoscoliosis and there was diVuse tenderness of the thoraco- lumbar spine. Her neurological examination was unremarkable. on September 29, 2021 by guest.
    [Show full text]
  • Osteogenesis Imperfecta: Recent Findings Shed New Light on This Once Well-Understood Condition Donald Basel, Bsc, Mbbch1, and Robert D
    COLLABORATIVE REVIEW Genetics in Medicine Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition Donald Basel, BSc, MBBCh1, and Robert D. Steiner, MD2 TABLE OF CONTENTS Overview ...........................................................................................................375 Differential diagnosis...................................................................................380 Clinical manifestations ................................................................................376 In utero..........................................................................................................380 OI type I ....................................................................................................376 Infancy and childhood................................................................................380 OI type II ...................................................................................................377 Nonaccidental trauma (child abuse) ....................................................380 OI type III ..................................................................................................377 Infantile hypophosphatasia ....................................................................380 OI type IV..................................................................................................377 Bruck syndrome .......................................................................................380 Newly described types of OI .....................................................................377
    [Show full text]
  • Anaesthetic Experience in a Patient with Severe Thoracolumbar Kyphosis -A Case Report
    Anesth Pain Med 2012; 7: 236~239 ■Case Report■ Anaesthetic experience in a patient with severe thoracolumbar kyphosis -A case report- Department of Anesthesiology and Pain Medicine, Asan Medical Center, *National Police Hospital, Seoul, Korea Hyungseok Seo, Sung-Hoon Kim, Tae-in Ham*, and Seung-il Ha Kyphosis is a deformity characterized by anterior flexion of the Surgical Inc., CA, USA). He had a history of untreated back vertebral column. When severe, kyphosis may decrease lung trauma at the age of 3 years, which resulted in a progressive volume and compliance, leading to increased work of breathing and thoracic kyphosis. Otherwise, the patient’s medical history deterioration of pulmonary function. Moreover, postoperative respiratory failure is a common problem for patients with severe included only a 40 pack-year history of remote tobacco use spinal deformities. We describe the successful case of general and benign prostatic hypertrophy. anaesthesia in a 71-year-old male patient with severe thoracolumbar Preoperative chest radiography revealed a severe kyphotic kyphosis undergoing open surgery converted from robotic surgery. (Anesth Pain Med 2012; 7: 236∼239) deformity of the thoracolumbar spine (Fig. 1 and 2), and computed tomography showed centrilobular emphysema in the Key Words: Kyphosis, Pulmonary atlectasis, Respiratory insuffi- upper lobes of both lungs. The posterior angle of the ciency, Robotics, Surgery computer assisted. thoracolumbar kyphosis, measured according to the method described by Dickson, was approximately 130 degrees [3]. The patient complained of mild dyspnea (NYHA class II) in a Kyphosis is a spinal deformity characterized by anterior daily activities and the results of preoperative pulmonary func- flexion of the vertebral column [1].
    [Show full text]
  • Diastrophic Dysplasia
    DIASTROPHIC DYSPLASIA Vernon Tolo, MD ICEOS 2018 DISCLOSURE • EDITOR EMERITUS, JBJS DIASTROPHIC DYSPLASIA – CHROMOSOMAL SITE 5q31-q34 – DEFECT IN DD SULFATE TRANSPORTASE – DIFFERENT GENOTYPES – RARE, EXCEPT IN FINLAND • CLINICAL FEATURES – SHORT, STIFF LIMBS – CLUBFEET – CAULIIFLOWER EAR – HITCHHIKER THUMB – VERY SHORT DIASTROPHIC DYSPLASIA – SPINAL ABNORMALITIES • CERVICAL KYPHOSIS • SEVERE KYPHOSCOLIOSIS • LUMBAR LORDOSIS AND STENOSIS DIASTROPHIC DYSPLASIA • CERVICAL SPINE KYPHOSIS – PRESENT AT BIRTH – AFFECTS C-3 TO C-5 – MOST RESOLVE WITHOUT TREATMENT • USUALLY BY AGE 6 YEARS – SMALL NUMBER WITH PROGRESSIVE KYPHOSIS • MAY DEVELOP MYELOPATHY DIASTROPHIC DYSPLASIA – CERVICAL KYPHOSIS UNTREATED – NEUROLOGIC NORMAL – DEVELOPMENTAL MILESTONES NORMAL FOR DD NEUTRAL FLEXION 2 YEARS 6 YEARS 6 DIASTROPHIC DYSPLASIA • NATURAL H/O CERVICAL KYPHOSIS (Remes, et al., 1999) – 120 PATIENTS IN FINLAND • NEWBORN TO 63 YEARS – 29 WITH KYPHOSIS OVERALL • 4/120 WITH SEVERE KYPHOSIS – 24/25 WITH XRAYS BY 18 MONTHS WITH KYPHOSIS • RESOLVED IN 24 BY MEAN 7.1 YEARS • KYPHOSIS < 60˚ SHOULD RESOLVE DIASTROPHIC DYSPLASIA • CERVICAL SPINE XRAY FINDINGS (Remes, et al. 2002) – 122 PATIENTS – AVERAGE LORDOSIS 17 DEGREES – FLAT VERTEBRAL BODIES – SAGITTAL CANAL NARROWED WITH AGE • DECLINE BEGINS AT AGE 8 YEARS – 79% WITH SPINA BIFIDA OCCULTA DIASTROPHIC DYSPLASIA • C-SPINE MRI FINDINGS (Remes, et al. 2000) – 90 PATIENTS AGED 3 MONTHS TO 50 YEARS • VERY WIDE FORAMEN MAGNUM • NARROWED SPINAL CANAL BELOW C-3 • ABNORMAL DISCS IN ALL, BEGINNING AT EARLY AGE – CERVICAL
    [Show full text]
  • RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa
    REPORT RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome Lina Basel-Vanagaite,1,2,14 Ofer Sarig,4,14 Dov Hershkovitz,6,7 Dana Fuchs-Telem,2,4 Debora Rapaport,3 Andrea Gat,5 Gila Isman,4 Idit Shirazi,4 Mordechai Shohat,1,2 Claes D. Enk,10 Efrat Birk,2 Ju¨rgen Kohlhase,11 Uta Matysiak-Scholze,11 Idit Maya,1 Carlos Knopf,9 Anette Peffekoven,12 Hans-Christian Hennies,12 Reuven Bergman,8 Mia Horowitz,3 Akemi Ishida-Yamamoto,13 and Eli Sprecher2,4,6,* Inherited disorders of elastic tissue represent a complex and heterogeneous group of diseases, characterized often by sagging skin and occasionally by life-threatening visceral complications. In the present study, we report on an autosomal-recessive disorder that we have termed MACS syndrome (macrocephaly, alopecia, cutis laxa, and scoliosis). The disorder was mapped to chromosome 20p11.21-p11.23, and a homozygous frameshift mutation in RIN2 was found to segregate with the disease phenotype in a large consan- guineous kindred. The mutation identified results in decreased expression of RIN2, a ubiquitously expressed protein that interacts with Rab5 and is involved in the regulation of endocytic trafficking. RIN2 deficiency was found to be associated with paucity of dermal micro- fibrils and deficiency of fibulin-5, which may underlie the abnormal skin phenotype displayed by the patients. Disorders of elastic tissue often share common phenotypic shown to result in decreased secretion of elastin.9,10 In features, including redundant skin, hyperlaxity of joints, addition,
    [Show full text]
  • SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA: REPORT of a CASE and REVIEW of the LITERATURE Saeed Bin Ayaz1, Samia Rauf2, Fawad Rahman3
    CASE REPORT SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA: REPORT OF A CASE AND REVIEW OF THE LITERATURE Saeed Bin Ayaz1, Samia Rauf2, Fawad Rahman3 1 Department of Rehabilitation ABSTRACT Medicine; Combined Military Hospi- tal, Quetta – Pakistan. Spondyloepiphyseal dysplasia congenita (SEDC) is a disorder of type II 2 Department of Radiology, Com- collagen synthesis that primarily affects the spine and proximal epiphyse- bined Military Hospital, Quetta - al centers. The abnormalities are present at birth and may include short Pakistan. stature, flattened facies, kyphoscoliosis, lumbar hyperlordosis, coxa vara 3 Department of Internal Medicine, and genu valgum. The defects may complicate into gait abnormality, early Combined Military Hospital, Sialkot degenerative changes, joint fusion, osteopenia and neurological compro- – Pakistan. mise. Early diagnosis of SEDC may prevent unnecessary diagnostic testing Address for Correspondence: for other causes of short stature and/or osteoarthritis and guide towards Dr. Saeed Bin Ayaz timely protective measures. We report here, a 4-years-old child, who pre- Consultant, sented with SEDC and was treated with analgesics and counselling of par- Pain Medicine & Rehabilitation, ents for prognosis, precautions, potential complications, treatment op- Combined Military Hospital, Quetta tions for the future and inheritance of the disease. – Pakistan. Email: [email protected] Key Words: Spondyloepiphyseal Dysplasia, Scoliosis, Short stature Date Received: May 07, 2018 Date Revised: February 17, 2019 Date Accepted: February 24, 2019 This case report may be cited as: Ayaz SB, Rauf S, Rahman F. Spondyloepiphyseal dysplasia congenita: Report of a case and review of the literature. J Postgrad Med Inst 2019; 33(1): 86-90. rd th INTRODUCTION 3 and 15 centile according to the world health orga- nization height-for-age chart for boys.
    [Show full text]
  • Severe Kyphoscoliosis Secondary to Neurofibromatosis. Case Presentation
    CASE PRESENTATION Severe kyphoscoliosis secondary to neurofibromatosis. Case presentation Luis E. Nuñez Alvarado,* Edgar Morales Vásquez,** Raúl Macchiavello Falcon# *Department of Orthopedics and Traumatology, Instituto Nacional de Salud del Niño - San Borja (Lima, Perú) **Department of Orthopedic and Trauma Surgery, Hospital Nacional Guillermo Almenara (Lima, Perú) ** # Department of Orthopedic and Trauma Surgery, Hospital Nacional María Auxiliadora (Lima, Perú) ABSTRACT Dystrophic scoliosis in neurofibromatosis is identifiable by being an acute-angle kyphoscoliosis involving a short segment of the spine and producing severe deformity that associated with the dystrophic changes of the spine result in real surgical challenges. We report the clinical case of a 15-year male with severe dystrophic kyphoscoliosis at the thoracolumbar area, with apex at T9, scoliosis with a Cobb angle of 107 °, and segmental kyphosis of 110.7°. The patient underwent a three-stage surgery, performed through a posterior approach, involving a vertebral column resection (VCR) and titanium mesh replacement, and achieving a ky- phosis correction of 56% and a scoliosis correction of 59.8%. The patient experienced no major complications nor sequelae and had a favorable course. The VCR is a powerful and demanding surgical technique that allows for the management of the complex kyphoscoliosis deformity to achieve spinal balance; however, it is not without complications, especially neurological and pulmonary complications, which may be unavoidable. Our patient’s quality of life has improved significantly. Key words: Neurofibromatosis; scoliosis; resection; spine Level of Evidence: IV Cifoescoliosis severa secundaria a neurofibromatosis. Presentación de un caso RESUMEN La escoliosis distrófica de la neurofibromatosis se caracteriza por ser una cifoescoliosis de ángulo agudo que compromete un segmento corto de la columna vertebral y genera una gran deformidad que, sumada a los cambios distróficos de la columna, convierte a los gestos quirúrgicos para su corrección en verdaderos retos.
    [Show full text]
  • Vertebral Column Malformations in New Zealand Delphinids with a Review of Cases World Wide
    Aquatic Mammals 2000, 26.1, 17–25 Vertebral column malformations in New Zealand delphinids with a review of cases world wide J. Berghan1 and I. N. Visser2 1117 Te Haumi Drive, Paihia, Bay of Islands, Northland, New Zealand 2The Orca Project, ‘Aorangi’, Matapouri Road, R.D 3, Whangarei, Northland, New Zealand Abstract Tursiops truncatus, Alexander et al., 1989; white- beaked dolphin, Lagenorhynchus albirostris, Few detailed reports of vertebral column malfor- Kompanje, 1995b; Risso’s dolphin, Grampus mations in cetaceans have been published. This griseus, Nutman & Kirk, 1988; Bortolotto, 1996; manuscript documents vertebral column malfor- and tucuxi, Sotalia fluviatilis, Fragoso, 1998). mation in ten wild delphinids (six bottlenose dol- Beyond these examples, the majority of accounts phins, two killer whales, and two Hector’s dolphins) are primarily anecdotal (bottlenose dolphin, Lilley, sighted in New Zealand waters. Three cases show 1962; Williams, 1992; Wells & Scott, 1997; Wilson scoliosis, three show kyphoscoliosis, two show et al., 1997; common dolphin, Delphinus delphis, kyphosis, one shows lordosis, and one case shows a Clokie & Kobus, 1990; Hector’s dolphin, Cephalo- slight lateral malformation. Previously documented rhynchus hectori, Dawson & Slooten, 1996; beluga cases of vertebral column malformations in ceta- whale, Delphinapterus leucas, Johnston & McCrea, ceans are listed, and further unpublished reports 1992; sperm whale, Physeter macrocephalus, Berzin, from around the world are presented in a table. The 1971; humpback whale, Megaptera novaeangliae, pathogenesis of vertebral column malformations in Osmond & Kaufman, 1998; and a fin whale fetus, cetaceans are discussed. Balaenoptera physalus, Slijper, 1949). Key words: vertebral column malformation, scolio- sis, kyphosis, kyphoscoliosis, lordosis, bottlenose Materials and Methods dolphin, killer whale, Hector’s dolphin.
    [Show full text]
  • Ehlers-Danlos Syndrome Precision Panel Overview Indications
    Ehlers-Danlos Syndrome Precision Panel Overview Ehlers-Danlos Syndromes (EDS) are a clinically and genetically heterogeneous group of connective-tissue disorders, where the genetic defect affects collagen and connective-tissue synthesis and structure. It is characterized by hypermobility, cutaneous fragility and hyperextensibility. Since the connective tissue is the tissue that helps body growth as well as serving as a scaffold for cells and organs, Ehlers-Danlos is a pleiotropic syndrome affecting the skin, joints and blood vessels. It has been classically divided into six types (classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis and dermatosparaxis), where the underlying collagen abnormality is different for each type. In some cases, EDS can be life threatening, whereas in others, individuals live a relatively uneventful life. EDS can have phenotypic overlap with conditions such as Marfan disease and cutis laxa. The Igenomix Ehlers-Danlos Syndrome Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of connective tissue disorders due to their overlapping phenotypic features ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next- generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. Indications The Igenomix Ehlers-Danlos Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of EDS presenting with: - Skin hyperextensibility - Joint Hypermobility - Easy bruising - Retinal detachment - Mitral valve prolapse - Hernias and organ prolapse - Skeletal abnormalities: pectus excavatum, high arched palate, pes planus - Digestive problems: heartburn and constipation - Urinary stress incontinence 1 Clinical Utility The clinical utility of this panel is: - The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
    [Show full text]
  • Pediatric Spinal Deformities
    Neurosurg Focus 14 (1):Article 3, 2003, Click here to return to Table of Contents Pediatric spinal deformities GREGORY C. WIGGINS, M.D., CHRISTOPHER I. SHAFFREY, M.D., MARK F. ABEL, M.D., AND ARNOLD H. MENEZES, M.D. Department of Neurosurgery, United States Air Force, Travis Air Force Base, Fairfield, California; Department of Neurosurgery, University of Washington School of Medicine, Seattle, Washington; Department of Orthopeaedic Surgery, University of Virginia School of Medicine, Charlottesville, Virginia; and Department of Neurosurgery, University of Iowa College of Medicine, Iowa City, Iowa Pediatric spinal deformity results from multiple conditions including congenital anomalies, neuromuscular disor- ders, skeletal dysplasia, and developmental disorders (idiopathic). Pediatric spinal deformities can be progressive and cause pulmonary compromise, neurological deficits, and cardiovascular compromise. The classification and treatment of these disorders have evolved since surgical treatment was popularized when Harrington distraction instrumentation was introduced. The advent of anterior-spine instrumentation systems has challenged the concepts of length of fusion needed to arrest curvature progression. Segmental fixation revolutionized the surgical treatment of these deformities. More recently, pedicle screw–augmented segmental fixation has been introduced and promises once again to shift the stan- dard of surgical therapy. Recent advances in thoracoscopic surgery have made this technique applicable to scoliosis surgery. Not only has surgical treatment progressed but also the classification of different forms of pediatric deformity con- tinues to evolve. Recently, Lenke and associates proposed a new classification for adolescent idiopathic scoliosis. This classification attempts to address some of the shortcomings of the King classification system. In this article the authors review the literature on pediatric spinal deformities and highlight recent insights into clas- sification, treatment, and surgery-related complications.
    [Show full text]
  • Sponsor Bergen University Indication and Treatment of Adult Spinal Deformity the INTRAKS-Study
    Sponsor Bergen University Indication and treatment of adult spinal deformity The INTRAKS-study 26.08.2020 1 Indications and Treatment of Adult Kypho- Scoliosis (INTRAKS Study) 2. Introduction Background of kyphoscoliosis and its challenges: Kyphosis is the normal forward rounding of the spine in its double S- shape. Excessive kyphosis can render the spine out of balance. The scoliosis is a sideways curvature of the back. Both adult kyphosis and scoliosis is a common result of degeneration in age. Correction surgery of spine deformities has been done for decades. This type of surgery has been accompanied by complications and variation in outcome and success, therefore, correction surgery of the spine has been reserved as a last resort. Recently, improved surgical techniques for osteotomies and development of equipment has led to a change and increase in indications. There is a need for well conducted studies on this patient group. Therefore, this study aims to evaluate outcome of different treatment options. Some of the reason for the increase in number of patients treated, is an aging population in the industrialized world combined with higher demands for being active at an older age. Patients with kyphoscoliosis disorders that are out of balance, can continue to decompensate, resulting in further nerve-, dura- and spinal cord compression. Suffering from severe pain, paresis and functional deficits, they are not able to participate in the daily life or take care of themselves. The risk for complications by the kyphotic disorder has to be weighed against the benefit of some pain reduction and increased function, even though they face a 30-70% risk of complications, 20- 40% of these being major complications that can result in paralysis, bowel- and bladder dysfunction, infections, hardware failure and more [1-8].
    [Show full text]
  • Study Design: Case Series of 19 Patients Operated for Severe Scoliosis and Diastematomyelia
    REVIEW ARTICLE/ARTIGO DE REVISÃO/ARTÍCULO DE REVISIÓN STUDY DESIGN: CASE SERIES OF 19 PATIENTS OPERATED FOR SEVERE SCOLIOSIS AND DIASTEMATOMYELIA SÉRIE DE CASOS DE 19 PACIENTES OPERADOS PARA ESCOLIOSE SEVERA E DIASTEMATOMIELIA DISEÑO DEL ESTUDIO: SERIE DE CASOS DE 19 PACIENTES OPERADOS POR ESCOLIOSIS GRAVE Y DIASTEMATOMIELIA MIKHAIL VITALIEVICH MIKHAYLOVSKIY,1 JEAN DUBOUSSET,1 VJACHESLAV VICTOROVTCH NOVIKOV,1 ALEXANDER SERGEEVICH VASYURA,1 INGA GENNADIEVNA UDALOVA,1 MIKHAIL ANATOLIEVICH SADOVOI1 1. Tsiv’yan Novosibirsk Research Institute of Traumatology and Orthopedics, Novosibirsk, Russia. ABSTRACT Objective: Diastematomyelia is a rare congenital spine and spinal cord malformation in which the spinal cord is divided into two parts by the osseous or fibrous septum. The incidence of diastematomyelia in patients with the most severe forms of congenital scoliosis is much higher than its general incidence in the population. When performing surgeries to correct scoliotic deformities, the question arises regarding the choice of a strategy for managing the septum. An unambiguous answer to this question does not exist, since the disease is very rare and heterogeneous. The aim was to summarize the data on different surgical strategies for detecting diastematomyelia. Methods: Literature review and retrospective analysis of our own clinical data. Results: We present our own experi- ence of treating 19 patients with diastematomyelia and severe congenital scoliosis. Posture disorder was corrected in all cases; the septum was removed in none of the cases. Significant correction was achieved for all patients, and no neurological complications were observed in the short- and long-term follow-up. Conclusions: Surgical nonremoval of the spur enables compensation to be achieved, without neurological complications either in the immediate postoperative period or in the long-term (more than 2 years) follow-up.
    [Show full text]