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kyphoscoliosis

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https://www.readbyqxmd.com/read/29643641/pierre-robin-sequence-with-cervicothoracic-kyphoscoliosis-an-anesthetic-challenge
#1
V Abraham, S Grewal, G Bhatia, N Kaur, W Raghav, P Jain, N Gupta, M Singh, C George
No abstract text is available yet for this article.
January 2018: Journal of Anaesthesiology, Clinical Pharmacology
https://www.readbyqxmd.com/read/29628596/subarachnoid-block-a-safe-choice-for-cesarean-section-in-neurofibromatosis-patient-with-severe-kyphoscoliosis
#2
Ibrahim Demir, Ebru Tarıkçı Kılıç, Mehmet Salim Akdemir
Neurofibromatosis type 1 (NF1) is an autosomal-dominant neuroectodermal hereditary disorder, in which spinal skeletal deformities are one of the manifestations. Pectus carinatum, temporomandibular joint dysfunction, and kyphoscoliosis can be seen with this genetic disorder which can lead to cardiorespiratory system problems and can cause difficulty in airway management. We present the anesthetic management of a NF1 patient with a sharp thoracolumbar dystrophic kyphoscoliosis who have been posted for emergency cesarean section as a result of fetal distress...
January 2018: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/29627275/growth-impairment-in-mucopolysaccharidoses
#3
REVIEW
Melodie Melbouci, Robert W Mason, Yasuyuki Suzuki, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that affect regulation of glycosaminoglycan (GAG) processing. In MPS, the lysosomes cannot efficiently break down GAGs, and the specific GAGs accumulated depend on the type of MPS. The level of impairment of breakdown varies between patients, making this one of the many factors that lead to a range of clinical presentations even in the same type of MPS. These clinical presentations usually involve skeletal dysplasia, in which the most common feature is bone growth impairment and successive short stature...
March 16, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29602482/-neurofibromatosis-as-a-cause-of-breathlessness
#4
A Palot, C Ferrandez, K Alagha, A Ilstad-Minnihan, C Tummino, M Gouitaa, D Charpin, P Chanez
INTRODUCTION: Type 1 neurofibromatosis, also called "Recklinghausen's disease" is among the most frequent autosomal dominant genetic disorders, with an incidence of 1:3500 births. It mainly affects the skin and peripheral nervous system. However, in its less frequent manifestations, are tumors such as meningocele and skeletal dysplasias leading to severe clinical presentation. CASE REPORT: We report the case of a 55-year-old patient with type 1 neurofibromatosis and dyspnea due to a large left thoracic meningocele combined with a significant kyphoscoliosis, causing a severe restrictive ventilatory defect, complicated by chronic respiratory failure and pulmonary hypertension...
March 27, 2018: Revue des Maladies Respiratoires
https://www.readbyqxmd.com/read/29600907/posterior-approach-single-level-apical-spinal-osteotomy-in-pediatric-patients-for-severe-rigid-kyphoscoliosis-long-term-clinical-and-radiological-outcomes
#5
Ankit Patel, Sameer Ruparel, Tarun Dusad, Gaurav Mehta, Vishal Kundnani
OBJECTIVE Spinal osteotomy in pediatric patients is challenging due to various factors. For correction of severe rigid kyphoscoliosis in children, numerous techniques with anterior or posterior or combined approaches, as well as multilevel osteotomies, have been described. These techniques are associated with prolonged operative times and large amounts of blood loss. The purpose of this study was to evaluate the clinical and radiologically confirmed efficacy of a modification of the apical spinal osteotomy (ASO) technique-posterior-only single-level asymmetric closing osteotomy-in pediatric patients with severe rigid kyphoscoliosis...
March 30, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29599822/novel-phenotype-of-5p13-3-q11-2-duplication-resulting-from-supernumerary-marker-chromosome-5-implications-for-management-and-genetic-counseling
#6
Margaret E Armstrong, David D Weaver, Melissa D Lah, Gail H Vance, Benjamin J Landis, Stephanie M Ware, Benjamin M Helm
Background: Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. The purpose of this study is to highlight the unique findings of a patient with a 5p13.3-q11.2 duplication arising from a SMC5 and compare and contrast the phenotype with cases in the literature. Case presentation: We report on an adult male with a 22 Mb duplication of chromosome 5p13...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29580726/-white-hemithorax-in-a-young-women-carrying-coffee-and-milk-spots
#7
S Ben Saad, M Abdenadher, M Attia, H Daghfous, F Tritar
INTRODUCTION: Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease is an autosomal dominant genetic disorder with multivisceral manifestations. We report the case of a spontaneous haemothorax in a young lady wearing this genetic pathology. CASE REPORT: A 31-year-old woman with kyphoscoliosis developed acute chest pain and dyspnea. The physical examination revealed a right pleuritic syndrome, coffee and milk spots and neurofibromas of the trunk. Biological assessment showed anemia at 6...
March 23, 2018: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/29509523/electrophysiology-of-muscle-fatigue-in-cardiopulmonary-resuscitation-on-manikin-model
#8
Carlos Cobo-Vázquez, Gemma De Blas, Pablo García-Canas, María Del Carmen Gasco-García
Cardiopulmonary resuscitation requires the provider to adopt positions that could be dangerous for his or her spine, specifically affecting the muscles and ligaments in the lumbar zone and the scapular spinal muscles. Increased fatigue caused by muscular activity during the resuscitation could produce a loss of quality and efficacy, resulting in compromising resuscitation. The aim of this study was to evaluate the maximum time a rescuer can perform uninterrupted chest compressions correctly without muscle fatigue...
2018: Anesthesia Progress
https://www.readbyqxmd.com/read/29462064/health-related-quality-of-life-of-adolescents-with-severe-untreated-congenital-kyphosis-and-kyphoscoliosis-in-a-developing-country
#9
Hany Abdel Gawwad Soliman
STUDY DESIGN: A cross-sectional study OBJECTIVE.: The aim of this study was to study the health-related quality of life (HRQOL) of adolescents with severe untreated congenital kyphosis (CK) and congenital kyphoscoliosis (CKS) in a developing country. SUMMARY OF BACKGROUND DATA: Surgical intervention is generally indicated early in patients with progressive CK or CKS to prevent the progression of deformity and to improve the quality of life of the patients. HRQOL of adolescents with untreated CK and CKS in developing countries has never been investigated...
February 16, 2018: Spine
https://www.readbyqxmd.com/read/29397630/-radiological-analysis-of-coronal-and-sagittal-spinopelvic-parameters-in-patients-with-degenerative-lumbar-kyphoscoliosis
#10
C J Liu, Z Q Zhu, S Duan, K F Wang, W W Xia, S Xu, H Y Liu
Objective: To review and compare radiological parameters between degenerative lumbar kyphoscoliosis (DLKS) and degenerative lumbar kyphosis (DLK), and analyze the relationships between coronal and sagittal deformities and compensatory mechanisms of sagittal balance. Methods: A total of 82 patients with lumbar degenerative deformities were enrolled for our radiographic study at Department of Spinal Surgery, Peking University People's Hospital from January 2016 to May 2017. These patients were divided into two groups: DLKS group (39 patients) with lumbar coronal and sagittal deformities, and DLK group (43 patients) just with lumbar sagittal deformity...
February 1, 2018: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/29397629/-comparison-of-clinical-outcome-between-utilized-second-sacral-alar-iliac-and-iliac-screw-on-kyphoscoliosis-patients
#11
Z Liu, C C Tseng, Z H Zhao, J Li, B Wang, Y Yu, B P Qian, X Sun, Y Qiu, Z Z Zhu
Objective: To compare the clinical outcome and health related quality of life(HRQoL)of patients with degenerative spinal deformity who underwent spino-pelvic fixation utilized second sacral alar-iliac(S(2)AI)with patient utilized traditional iliac screw(IS). Methods: Patients diagnosed as degenerative spinal deformity who underwent spino-pelvic fixation utilized either S(2)AI screw or Iliac screw at Department of Spine Surgery of Drum Tower hospital from January 2013 to January 2016 were retrospectively analyzed...
February 1, 2018: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/29334774/three-column-osteotomy-for-adult-spine-deformity-comparison-of-outcomes-and-complications-between-kyphosis-and-kyphoscoliosis
#12
Jun Qiao, Lingyan Xiao, Xu Sun, Zhen Liu, Zezhang Zhu, Bangping Qian, Yong Qiu
BACKGROUND: To compare the surgical outcomes and complications between kyphosis and kyphoscoliosis when using three-column osteotomies. METHODS: Adult spine deformity (ASD) patients with three column osteotomies from March 2005 to December 2014 in our center were retrospectively reviewed. Pre- and postoperative standing postero-anterior and lateral radiographs of the entire spine were obtained. Scoliosis Research Society-22 questionnaire [SRS-22] and Oswestry Disability Index [ODI] were administered preoperatively, postoperatively (surveys within 2 months after surgery), and at final follow-up...
January 15, 2018: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/29326877/natural-history-of-morquio-a-patient-with-tracheal-obstruction-from-birth-to-death
#13
Caitlin Doherty, Lauren W Averill, Mary Theroux, William G Mackenzie, Christian Pizarro, Robert W Mason, Shunji Tomatsu
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N -acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The accumulation of these GAGs leads to distinguishing features as skeletal dysplasia with disproportionate dwarfism, short neck, kyphoscoliosis, pectus carinatum, tracheal obstruction, coxa valga, genu valgum, and joint laxity...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29280899/surgical-correction-of-severe-kyphoscoliosis-associated-with-crouzon-syndrome-with-serious-postoperative-respiratory-problems-a-case-report
#14
Taro Umezu, Nobuyuki Fujita, Mitsuru Yagi, Osahiko Tsuji, Narihito Nagoshi, Ken Ishii, Masaya Nakamura, Morio Matsumoto, Kota Watanabe
CASE: A 12-year-old girl with Crouzon syndrome presented to our hospital with scoliosis (114°) and kyphosis from T8 to T12 (138°). After she had been in halo-gravity traction for 2 weeks, we performed posterior correction and fusion surgery from T3 to L3, with a posterior vertebral column resection of T10. She experienced postoperative respiratory failure and remained on a ventilator for 4 weeks. With rehabilitation, the respiratory function had recovered by postoperative week 8. At the 2-year follow-up, there was no loss of correction or any other complication...
October 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29261580/ehlers-danlos-syndrome-type-ivb-and-tracheobronchomegaly
#15
Saniye Girit, Ebru Senol, Yakup Cag, Ozge Karatas, Tamer Baysal
Tracheobronchomegaly (TBM) is a rare disease of unknown etiology, characterized by dilatation of the trachea and main bronchi. Despite its rarity, TBM has been reported to accompany several conditions, particularly Ehlers-Danlos syndrome. Herein, we report on a 15-year-old patient who was diagnosed with TBM on the basis of radiologic and endoscopic findings and with Ehlers-Danlos syndrome type IVB presenting with marfanoid features, severe kyphoscoliosis, increased skin elasticity, and ongoing hypotonia since the neonatal period...
January 2018: Journal of Bronchology & Interventional Pulmonology
https://www.readbyqxmd.com/read/29260614/neuroimaging-findings-in-pallister-killian-syndrome
#16
Emil Jernstedt Barkovich, Tarannum Musvee Lateef, Matthew T Whitehead
Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. Comprehensive high-resolution brain MR findings of PKS in childhood have not been previously illustrated in the medical literature. We present detailed neuroimaging findings from a child with PKS and thoroughly review previously reported structural brain abnormalities in this patient population...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/29260090/a-recurrent-non-penetrant-sequence-variant-p-arg266cys-in-growth-differentiation-factor-3-gdf3-in-a-female-with-unilateral-anophthalmia-and-skeletal-anomalies
#17
Tanya Bardakjian, Max Krall, Di Wu, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Sarina Kopinsky, Adele Schneider, Pui-Yan Kwok, Anne Slavotinek
Purpose: The genetic causes of anophthalmia, microphthalmia and coloboma remain poorly understood. Missense mutations in Growth/Differentiation Factor 3 ( GDF3 ) gene have previously been reported in patients with microphthalmia, iridial and retinal colobomas, Klippel-Feil anomaly with vertebral fusion, scoliosis, rudimentary 12th ribs and an anomalous right temporal bone. We used whole exome sequencing with a trio approach to study a female with unilateral anophthalmia, kyphoscoliosis and additional skeletal anomalies...
September 2017: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29236131/trends-in-incidence-and-long-term-outcomes-of-myelomeningocele-in-british-columbia
#18
Taylor North, Alexander Cheong, Paul Steinbok, Julia Ae Radic
PURPOSE: Myelomeningocele is typically a disabling condition that results in neurologic, orthopedic, and urologic morbidity. The aim of this study was to examine the trends over time in both incidence and outcomes of myelomeningocele (MMC) in British Columbia (BC). METHODS: A retrospective chart review was performed of all children with MMC followed in the British Columbia Children's Hospital (BCCH) Spinal Cord Clinic between 1971 and 2016. The incidence of new MMC cases and the long-term outcomes of MMC were compared between two 10-year cohorts...
April 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29033731/ultrasound-guided-continuous-spinal-anesthesia-for-cesarean-section-in-a-parturient-with-scoliosis-corrected-with-harrington-s-rod-surgery
#19
Amer Majeed, Iftikhar Ahmed, Ghadah Jamaan Alkahtani, Nasser Abdullah Altahtam
With rapid improvement in healthcare in Saudi Arabia, increasing number of women with surgically corrected kyphoscoliosis are likely to present for cesarean section (CS) or vaginal delivery requiring anesthesia or analgesia. Despite the surgical correction, these patients have poor cardiopulmonary reserves which increase the risks associated with general anesthesia. Whereas altered vertebral anatomy from previous surgery and the presence of metal work in spine make performing of regional anesthesia (RA) difficult and unpredictable, we report anesthetic management of such a patient who underwent CS using continuous spinal anesthesia technique...
October 2017: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/29033379/is-vertebral-column-resection-vcr-necessary-in-correcting-severe-and-rigid-thoracic-kyphoscoliosis-a-single-institution-surgical-experience
#20
Fan Hengwei, Li Xueshi, Huang Zifang, Sui Wenyuan, Lang Chuandong, Yang Jingfan, Yang Junlin
BACKGROUND: Three-column spinal osteotomies were developed to address severe and stiff kyphoscolisis. However, the optimal choice of osteotomy in these patients is still unclear. This retrospective study aims to compare the outcomes and complications between grade 4 and grade 5 osteotomies in patients with severe and stiff thoracic kyphoscoliosis. METHODS: Forty-five patients with severe and stiff thoracic kyphoscoliosis who underwent three-column osteotomy in the thoracic spine were classified into 2 groups according to the grade of osteotomy...
October 12, 2017: World Neurosurgery
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