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kyphoscoliosis repair

Shilpa Ajit Joshi, Shalomith Uppapalli, Pranav More, Madan Deshpande
Brittle cornea syndrome is a rare generalised connective tissue disorder with ocular features like keratoglobus or keratoconus, severe corneal thinning and a high risk of perforation. Various authors in different case reports and case series have brought out the fact that brittle cornea is a disorder with characteristic systemic manifestations such as deafness, joint hypermobility, hyperelasticity of skin, kyphoscoliosis and dental abnormalities alongwith ophthalmic features. We report a case of globe perforation following trivial trauma, in an individual with brittle cornea without any extraocular manifestations, posing a challenge in the diagnosis and dilemma in surgical repair of cornea, restoration of globe integrity and visual rehabilitation...
October 7, 2016: BMJ Case Reports
Young-Hoon Kim, Genriech N Reoyan, Kee-Yong Ha, Chul-Kyu Kim
STUDY DESIGN: A case report and literature review OBJECTIVE.: To report a late dislocation of the vertebra caused by progressive dural ectasia combined with type-1 neurofibromatosis (NF-1) and the clinical results of pseudoarthrosis repairs using autologous cultured osteoblasts. SUMMARY OF BACKGROUND DATA: NF-1 is a well-known genetic disorder that is commonly characterized by spinal deformities including kyphoscoliosis. Late dislocation of the vertebra resulting from progressive dural ectasia after surgical correction of NF-1 scoliosis is a very rare occurrence, and pseudoarthrosis frequently develops after surgical intervention for this complex spinal deformity...
May 3, 2016: Spine
Ayodeji Salman Yusuf, Ashok Pillai, Sajesh K Menon, Dilip Panikar
Neurofibromatosis type 1 (NF-1) is a heterogeneous autosomal dominant disease with an incidence ranging from 1 in 2500 to 1 in 3000. Rare intrathoracic vascular disorders resulting in massive spontaneous hemothorax with fatal consequences may occur in these patients, so also are various types of skeletal dysplasia which may result in dramatic presentations, posing management challenges to the attending physicians. We report the case of a 43-year-old woman with NF-1 who developed spontaneous massive hemothorax and was discovered to have a concurrent giant intrathoracic meningocele and thoracic kyphoscoliosis with severe vertebral dysplastic changes...
January 2014: Journal of Surgical Technique and Case Report
Fransiska Malfait, Ariana Kariminejad, Tim Van Damme, Caroline Gauche, Delfien Syx, Faten Merhi-Soussi, Sandrine Gulberti, Sofie Symoens, Suzanne Vanhauwaert, Andy Willaert, Bita Bozorgmehr, Mohamad Hasan Kariminejad, Nazanin Ebrahimiadib, Ingrid Hausser, Ann Huysseune, Sylvie Fournel-Gigleux, Anne De Paepe
Proteoglycans are important components of cell plasma membranes and extracellular matrices of connective tissues. They consist of glycosaminoglycan chains attached to a core protein via a tetrasaccharide linkage, whereby the addition of the third residue is catalyzed by galactosyltransferase II (β3GalT6), encoded by B3GALT6. Homozygosity mapping and candidate gene sequence analysis in three independent families, presenting a severe autosomal-recessive connective tissue disorder characterized by skin fragility, delayed wound healing, joint hyperlaxity and contractures, muscle hypotonia, intellectual disability, and a spondyloepimetaphyseal dysplasia with bone fragility and severe kyphoscoliosis, identified biallelic B3GALT6 mutations, including homozygous missense mutations in family 1 (c...
June 6, 2013: American Journal of Human Genetics
E Gok, O S Goksel, U Alpagut, E Dayioglu
The Ehlers-Danlos Syndrome (EDS) is a rare connective tissue disorder characterised by fragility of the soft connective tissues and widespread manifestations in skin, ligaments, joints, blood vessels and internal organs. We report a case of a 12-year-old boy, previously diagnosed with kyphoscoliosis-type EDS (type VI), presenting with a left brachial artery pseudo-aneursym with history of multiple spontaneous and post-traumatic arterial ruptures. Surgical management of this patient was performed successfully by primary repair of brachial artery lesion...
November 2012: European Journal of Vascular and Endovascular Surgery
Kie Ogawa, Norihisa Nitta, Akinaga Sonoda, Masashi Takahashi, Tomoaki Suzuki, Shoji Kitamura, Jun Hanaoka, Noriaki Tezuka, Kiyoshi Murata
INTRODUCTION: Tracheo-brachiocephalic artery fistulae are critical long-term complications after tracheostomy, reported in 0.6% of patients within three to four weeks after the procedure. In 30% to 50% of cases there is some bleeding prior to onset. Since the onset involves sudden massive bleeding, the prognosis is poor; the reported survival rate is 10% to 30%. The direct cause of bleeding is the formation of a fistula with the trachea subsequent to arterial injury by the tracheostomy tube...
2011: Journal of Medical Case Reports
M Polomsky, J H Peters, S I Schwartz
Our understanding of esophageal disease and the foregut has evolved over the past 100 years, especially in recent times. Modern diagnostic technologies and new management paradigms have provided progressive insights into the anatomy, physiology, and normal and abnormal function of the esophagus, as well as improving patient care. Yet, the relationship between the esophagus and its close neighbor, the spine, is rarely discussed and likely underappreciated. Anatomic proximity and intertwined pathophysiology led early investigators to postulate relationships between esophageal disease and spinal abnormalities...
July 2012: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
Xiaohua Wu, Shi Chen, Yongzheng He, Steven D Rhodes, Khalid S Mohammad, Xiaohong Li, Xianlin Yang, Li Jiang, Grzegorz Nalepa, Paige Snider, Alexander G Robling, D Wade Clapp, Simon J Conway, Theresa A Guise, Feng-Chun Yang
Germline mutations in the NF1 tumor suppressor gene cause neurofibromatosis type 1 (NF1), a complex genetic disorder with a high predisposition of numerous skeletal dysplasias including short stature, osteoporosis, kyphoscoliosis, and fracture non-union (pseudoarthrosis). We have developed murine models that phenocopy many of the skeletal dysplasias observed in NF1 patients, including reduced bone mass and fracture non-union. We also show that the development of these skeletal manifestations requires an Nf1 haploinsufficient background in addition to nullizygous loss of Nf1 in mesenchymal stem/progenitor cells (MSCs) and/or their progenies...
2011: PloS One
Paul R Mark, Wilfredo Torres-Martinez, Ralph S Lachman, David D Weaver
Heterozygous sequence variants of the COL2A1 gene cause a phenotypic spectrum collectively called type II collagenopathies. Here, we describe a COL2A1 sequence variant, c.2957C>T, p.Pro986Leu in the triple helical domain, which is a Y-position substitution in exon 41 of the repeating triplet sequence Gly-X-Y of the proα1(II) chain. This sequence variant was associated with a mild spondyloepiphyseal dysplasia phenotype in three individuals in a three-generation family. On clinical examination at the age of 19 months, the proband had a flat face, bifid uvula, and a protruding abdomen...
January 2011: American Journal of Medical Genetics. Part A
Matthew J Schuchert, Prasad S Adusumilli, Chris C Cook, Christos Colovos, Arman Kilic, Katie S Nason, Joshua P Landreneau, Thomas Zikos, Robert Jack, James D Luketich, Rodney J Landreneau
BACKGROUND: Kyphoscoliosis is seen in approximately 1.4-15% of the octogenarian population of the US. We hypothesized that patients with kyphoscoliosis are affected with a reduced intra-abdominal volume and progressive laxity of the diaphragmatic hiatal sling musculature leading to an increased risk of hiatal hernia formation and progression over time. METHODS: We retrospectively reviewed the clinical history and roentgenographic data of 320 paraesophageal hernia patients from 2003 to 2007...
January 2011: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
Jia-Woei Hou
BACKGROUND: Several progeroid disorders presenting a specific "old-man" appearance since birth or childhood have been described. Here, five patients with a history of severe intrauterine and postnatal growth retardation and pseudohydrocephaloid cranium noted after birth that were suggestive of neonatal progeroid syndrome (NPS) or Wiedemann-Rautenstrauch syndrome are reported. We discuss the natural course of the syndrome. METHODS: A series of anthropometric measurements, imaging, dual energy X-ray absorptiometry, and endocrine investigations to assess metabolic complications such as hyperinsulinemia and dyslipidemia were performed on these five patients who were followed for 1-7 years...
June 2009: Pediatrics and Neonatology
Pankaj Kundra, Anita Joseph, Senthil Kumar, B V Sai Chandran
The presence of kyphoscoliosis can adversely affect gas exchange because of restriction to gas flow and reduction of lung volume. The effects become more exaggerated during positive-pressure ventilation due to the uneven distribution of ventilation. The use of a double-lumen tube helps to reduce the ventilation perfusion mismatch that occurs because of positive-pressure ventilation. We report a patient with severe kyphoscoliosis who underwent repair of an atrial septal defect, in whom a double-lumen tube was used for ventilation and the conduct of general anesthesia...
2008: Journal of Anesthesia
Madan Sharma, Rahul Sakhuja, David Teitel, Andrew Boyle
An uncommon occurrence during central venous catheterization, inadvertent arterial sheath placement can cause potentially serious complications. When the subclavian artery is inadvertently cannulated, catheter removal may be complicated by significant hemorrhage due to its noncompressible location. We report a case of inadvertent insertion of a 7 Fr central venous catheter into the subclavian artery of a patient with severe kyphoscoliosis, Duchenne muscular dystrophy and cardiomyopathy. The catheter was successfully removed, however the initial attempt at closure device deployment resulted in abrupt closure of the subclavian artery...
July 2008: Journal of Invasive Cardiology
Ujjwal K Debnath, Hemant Sharma, Darren Roberts, N Kumar, Sashin Ahuja
STUDY DESIGN: An unusual case of postoperative thrombosis of celiac artery in a patient of Type VI Ehlers-Danlos syndrome (EDS) with severe kyphotic deformity is reported. OBJECTIVE: To describe an unusual complication of celiac artery thrombosis following surgical correction of kyphotic deformity in Type VI EDS. SUMMARY OF BACKGROUND DATA: Neurologic deficit following surgical correction for kyphoscoliotic deformities in patients with Type VI has been reported in 4 cases previously...
August 15, 2007: Spine
Nanci Yuan, David L Skaggs, Fred Dorey, Thomas G Keens
Scoliosis is associated with progressive restrictive lung disease and an increased risk of pulmonary complications following surgical correction. Identification of higher risks for prolonged postoperative mechanical ventilation (MV) improves postoperative care. Our objective was to determine if preoperative pulmonary function tests (PFT) predict prolonged postoperative MV (defined as MV >or=3 days). We correlated preoperative PFT (forced expired volume in 1 sec, FEV1; vital capacity, VC; inspiratory capacity, IC; maximal inspiratory pressure, MIP; total lung capacity, TLC; and residual volume, RV) and postoperative MV days in 125 patients who had scoliosis surgery (aged 13...
November 2005: Pediatric Pulmonology
Mark Ragucci, Alan Vainrib
We report a case of a spontaneous sternal fracture secondary to idiopathic osteoporosis in a man in his late forties. His restrictive lung disorder from thoracic kyphoscoliosis was exacerbated by surgery to repair the sternal fracture. Inpatient cardiopulmonary rehabilitation helped this patient regain independence in functional status and ambulation after repair of the fractured sternum.
July 2005: Archives of Physical Medicine and Rehabilitation
Dan E Mason, James O Sanders, William G MacKenzie, Yoshinori Nakata, Robert Winter
BACKGROUND DATA: Our purpose was to describe the deformities, natural history, and course of treatment in chondrodysplasia punctata, a skeletal dysplasia characterized by stippled epiphysis in infancy, short stature, and progressive kyphoscoliosis. STUDY DESIGN: We identified 20 patients (15 female, 5 male) with chondrodysplasia punctata and spinal abnormalities. RESULTS: The spinal deformity was rarely present in the neonatal radiographs but typically appeared during the first year...
September 15, 2002: Spine
R K Suri, N K Jha, V Sarwal
A case of parachute mitral valve (PMV) associated with multiple muscular ventricular septal defects (VSDs) is reported in a 16-year-old girl who presented with dyspnea and a cardiac murmur. In addition, there were deformities of the right ear lobe and kyphoscoliosis of the thoracolumbar spine since birth. A preoperative diagnosis was made using two-dimensional and Doppler echocardiography, cardiac catheterization and angiocardiography. PMV was found to be stenotic and mildly regurgitant. At surgery, mitral valvuloplasty, preservation of the native valve apparatus and Dacron patch closure of multiple muscular VSDs was achieved...
January 1997: Journal of Heart Valve Disease
K Vanamo, J Peltonen, R Rintala, H Lindahl, J Jääskeläinen, I Louhimo
Between 1948 and 1980, 107 of 164 patients survived after repair of congenital diaphragmatic defects. To study chest wall and spinal deformities among these patients, 60 survivors (mean age, 29.6 +/- 9.0 years) underwent clinical examination, chest and spinal radiography, spirometry, and diffusing capacity measurements. Twenty-seven of these patients also had body pletysmography, xenon 133 radiospirometry, and a test for bronchial hyperreactivity. Chest asymmetry was present in 29 patients (48%). Eleven patients (18%) had pectus excavatum, and one had a pectus carinatum deformity...
June 1996: Journal of Pediatric Surgery
A Ansari
TEE is the most recent and significant addition to the already existent array of cardiovascular ultrasound imaging techniques. Never before have cardiologists reaped so many benefits from their exploitation of the close anatomic relationship between the heart and esophagus, and never before has there been such a close co-operation and imparting of expertise between gastroenterologists and cardiologist. TEE consists of two-dimensional cardiac and vascular imaging via the esophagus by a flexible echoscope which contains a phased-array mono- or biplane transducer (5MHz) mounted on its distal end...
July 1993: Indian Heart Journal
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