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Congenital scoliosis

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https://www.readbyqxmd.com/read/28328134/somatic-pik3ca-mutations-in-seven-patients-with-pik3ca-related-overgrowth-spectrum
#1
Kit San Yeung, Janice Jing Kun Ip, Chin Pang Chow, Evelyn Yue Ling Kuong, Paul Kwong-Hang Tam, Godfrey Chi-Fung Chan, Brian Hon-Yin Chung
Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the "PIK3CA-Related Overgrowth Spectrum." Here, we present seven molecularly confirmed patients with PIK3CA-Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel-Trenaunay syndrome, lymphatic malformation and two with atypical phenotypes that cannot be classified into existing disease categories. The literature on PIK3CA-Related Overgrowth Spectrum, suggests that PIK3CA c...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28318781/spinal-fusion-in-a-patient-with-fukuyama-congenital-muscular-dystrophy
#2
Kaori Hino, Mitsumasa Fukuda, Tadao Morino, Tadanori Ogata, Masanori Ito, Eiichi Ishii
Many studies have evaluated surgical treatments for spinal deformities in patients with neuromuscular disease. However, few reports have described patients with Fukuyama congenital muscular dystrophy (FCMD). A 13-year-old boy with FCMD was unable to sit for long periods or sleep in the supine position because of progressive scoliosis. His Cobb angle worsened from 27° to 41° in 5months. He underwent standard posterior spinal fusion and pedicle-screw-alone fixation from T5 to S1. Postoperatively, his Cobb angle improved from 41° to 25° without exacerbation for 2years...
March 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28302169/two-novel-lhx3-mutations-in-patients-with-combined-pituitary-hormone-deficiency-including-cervical-rigidity-and-sensorineural-hearing-loss
#3
Khushnooda Ramzan, Bassam Bin-Abbas, Lolwa Al-Jomaa, Rabab Allam, Mohammed Al-Owain, Faiqa Imtiaz
BACKGROUND: Congenital combined pituitary hormone deficiency (CPHD) is a rare heterogeneous group of conditions. CPHD-type 3 (CPHD3; MIM# 221750) is caused by recessive mutations in LHX3, a LIM-homeodomain transcription factor gene. The isoforms of LHX3 are critical for pituitary gland formation and specification of the anterior pituitary hormone-secreting cell types. They also play distinct roles in the development of neuroendocrine and auditory systems. CASE PRESENTATION: Here, we summarize the clinical, endocrinological, radiological and molecular features of three patients from two unrelated families...
March 16, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28281004/selective-hemivertebrae-resection-in-a-congenital-scoliosis-patient-with-multiple-hemivertebrae-deformities
#4
Yangpu Zhang, Jincai Yang, Lijin Zhou, Aixing Pan, Yong Hai
PURPOSE: To report the surgical experience of selective hemivertebrae resection for a case of congenital scoliosis with multiple hemivertebrae deformities. METHODS: A 14-year-old male presented with progressive rib hump, tilted torso and spine deformity was admitted in our department. No abnormalities were detected in neurological examination and the comprehensive imaging study demonstrated congenital scoliosis of multiple hemivertebrae in T5, T10, L1 and L3. Treatment of the patient commenced with a 10-day skin traction therapy prior to the surgery...
March 9, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28281002/expert-s-comment-concerning-grand-rounds-case-entitled-selective-hemivertebrae-resection-in-a-congenital-scoliosis-patient-with-multiple-hemivertebrae-deformities-by-yangpu-zhang-et-al-eur-spine-j-2017-doi-10-1007-s00586-017-4960-7
#5
https://www.readbyqxmd.com/read/28267910/-surgical-management-of-spinal-deformity-in-a-patient-with-escobar-syndrome-review-of-the-literature
#6
M C Hernández-Hernández, J A Canales-Nájera, J S De La Cruz-Álvarez, M E Tena-Zanabria, J Matus-Jiménez
BACKGROUND: The non-lethal variant of the Escobar or multiple pterygium syndrome is an entity of autosomal recessive inheritance linked to the X chromosome; it is characterized by multiple pterygia (hence its name) located mainly in the neck (95%) and armpits (55%), as well as other orthopedic malformations such as a vertical talus, congenital hip dislocation, and congenital scoliosis. OBJECTIVE: To present an optional surgical technique for the management of severe spinal deformities...
July 2016: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/28262468/congenital-myopathy-with-corona-fibres-selective-muscle-atrophy-and-craniosynostosis-associated-with-novel-recessive-mutations-in-scn4a
#7
Hernan D Gonorazky, Christian R Marshall, Maryam Al-Murshed, Lili-Naz Hazrati, Michael G Thor, Michael G Hanna, Roope Männikkö, Peter N Ray, Grace Yoon
We describe two brothers with lower facial weakness, highly arched palate, scaphocephaly due to synostosis of the sagittal and metopic sutures, axial hypotonia, proximal muscle weakness, and mild scoliosis. The muscle MRI of the younger sibling revealed a selective pattern of atrophy of the gluteus maximus, adductor magnus and soleus muscles. Muscle biopsy of the younger sibling revealed myofibres with internalized nuclei, myofibrillar disarray, and "corona" fibres. Both affected siblings were found to be compound heterozygous for c...
February 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28261428/association-between-sacral-slanting-and-adjacent-structures-in-patients-with-adolescent-idiopathic-scoliosis
#8
Jae Hwan Cho, Choon Sung Lee, Youn-Suk Joo, Jungu Park, Chang Ju Hwang, Dong-Ho Lee
BACKGROUND: Sacral slanting is a frequent unique phenomenon in patients with adolescent idiopathic scoliosis (AIS) and may be important for selecting the distal fusion level. However, the reason of the phenomenon remains unknown. The purpose of this study was to determine the association between sacral slanting and adjacent structures in patients with AIS. METHODS: A total of 303 AIS patients who underwent both whole spine standing anteroposterior (AP) and whole leg standing AP radiography were included...
March 2017: Clinics in Orthopedic Surgery
https://www.readbyqxmd.com/read/28250456/biallelic-mutations-in-human-dcc-cause-developmental-split-brain-syndrome
#9
Saumya S Jamuar, Klaus Schmitz-Abe, Alissa M D'Gama, Marie Drottar, Wai-Man Chan, Maya Peeva, Sarah Servattalab, Anh-Thu N Lam, Mauricio R Delgado, Nancy J Clegg, Zayed Al Zayed, Mohammad Asif Dogar, Ibrahim A Alorainy, Abdullah Abu Jamea, Khaled Abu-Amero, May Griebel, Wendy Ward, Ed S Lein, Kyriacos Markianos, A James Barkovich, Caroline D Robson, P Ellen Grant, Thomas M Bosley, Elizabeth C Engle, Christopher A Walsh, Timothy W Yu
Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new human syndrome in which these commissures are widely disrupted, thus causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disability. Affected individuals were found to possess biallelic loss-of-function mutations in the gene encoding the axon-guidance receptor 'deleted in colorectal carcinoma' (DCC), which has been implicated in congenital mirror movements when it is mutated in the heterozygous state but whose biallelic loss-of-function human phenotype has not been reported...
February 27, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28243591/transcranial-motor-evoked-potentials-during-spinal-deformity-corrections-safety-efficacy-limitations-and-the-role-of-a-checklist
#10
Shankar Acharya, Nagendra Palukuri, Pravin Gupta, Manish Kohli
INTRODUCTION: Intraoperative neuromonitoring (IONM) has become a standard of care in spinal deformity surgeries to minimize the incidence of new onset neurological deficit. Stagnara wake up test and ankle clonus test are the oldest techniques described for spinal cord monitoring, but they cannot be solely relied upon as a neuromonitoring modality. Somatosensory evoked potentials monitor only dorsal tracts and give high false positive and negative alerts. Transcranial motor evoked potentials (TcMEPs) monitor the more useful motor pathways...
2017: Frontiers in Surgery
https://www.readbyqxmd.com/read/28241720/-proximal-junctional-kyphosis-after-posterior-hemivertebra-resection-and-instrumented-fusion-in-young-children-with-congenital-scoliosis
#11
X Sun, X Chen, Z H Chen, Z Z Zhu, F Zhu, Z Liu, B P Qian, B Wang, J Qiao, Y Qiu
Objective: To investigate the risk factors of proximal junctional kyphosis(PJK) in young children who underwent posterior hemivertebra resection and instrumented fusion. Methods: This study reviewed the charts and radiographs of 136 consecutive young children with congenital scoliosis who underwent posterior hemivertebra resection and instrumented fusion in Department of Orthopaedics, Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School from January 2009 to June 2014, including 75 males and 61 females, with an average age of (5...
March 1, 2017: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/28198779/genetic-variant-of-gpr126-gene-is-functionally-associated-with-adolescent-idiopathic-scoliosis-in-chinese-population
#12
Xiaodong Qin, Leilei Xu, Chao Xia, Weiguo Zhu, Weixiang Sun, Zhen Liu, Yong Qiu, Zezhang Zhu
STUDY DESIGN: A genetic association study of GPR126 gene with adolescent idiopathic scoliosis (AIS) in the Chinese population. OBJECTIVE: To investigate whether rs9403380, rs6570507 and rs7774095 of GPR126 gene are susceptible locus of AIS and to further determine the functional variants regulating gene expression in tissues of AIS. SUMMARY OF BACKGROUND DATA: Previous studies have identified several new susceptibility locus for AIS in GPR126 gene...
February 14, 2017: Spine
https://www.readbyqxmd.com/read/28196030/physical-activities-and-lifestyle-factors-related-to-adolescent-idiopathic-scoliosis
#13
Kota Watanabe, Takehiro Michikawa, Ikuho Yonezawa, Masashi Takaso, Shohei Minami, Shigeru Soshi, Takashi Tsuji, Eijiro Okada, Katsumi Abe, Masamichi Takahashi, Keiko Asakura, Yuji Nishiwaki, Morio Matsumoto
BACKGROUND: In addition to genetic factors, environmental and lifestyle factors are thought to play an important role in the onset of adolescent idiopathic scoliosis (AIS). This cross-sectional study was conducted to explore lifestyle factors related to AIS. METHODS: This study included 2,759 Japanese female junior high school students who planned a secondary screening after an initial moiré topography screening indicated possible scoliosis. The students and their mothers, or guardians, were asked to fill out a questionnaire consisting of 38 questions about demographic factors, lifestyle-related factors, social factors, household environment, participation in sports, health status, and factors related to the mother's pregnancy and delivery...
February 15, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28192267/posterior-only-vertebral-column-resection-for-the-treatment-of-severe-spinal-deformities-in-pediatric-patients-a-retrospective-case-series
#14
Malte Schroeder, Lennart Viezens, Philip Kunkel, Karsten Ridderbusch, Tim Nicolas Hissnauer, Oliver Dirk Jungesblut, Michael Hoffmann, Johannes Maria Rueger, Ralf Stuecker
OBJECTIVE: The treatment of severe spinal deformities in pediatric patients is very challenging. Posterior only vertebral column resection (PVCR) allows for correcting of severe deformities of the vertebral column via a posterior only procedure. We analyzed radiological outcome of PVCR performed on a series of pediatric patients with severe congenital and acquired spinal deformities. METHODS: A case series of eleven pediatric patients with severe spinal deformity who were treated by PVCR between 2009 and 2013 were retrospectively analyzed...
February 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28187070/proximal-junctional-kyphosis-after-posterior-spinal-instrumentation-and-fusion-in-young-children-with-congenital-scoliosis-a-preliminary-report-on-its-incidence-and-risk-factors
#15
Xi Chen, Zhong-Hui Chen, Yong Qiu, Ze-Zhang Zhu, Song Li, Liang Xu, Xu Sun
STUDY DESIGN: A retrospective study. OBJECTIVE: To determine the incidence and risk factors of proximal junctional kyphosis (PJK) in young children who underwent posterior instrumented spinal fusion. SUMMARY OF BACKGROUND DATA: PJK is a well-recognized postoperative complication in adults and adolescents. However, there is a paucity of valid data with regard to PJK in young children with congenital scoliosis who were treated with posterior correction surgery...
February 9, 2017: Spine
https://www.readbyqxmd.com/read/28180979/the-influence-of-isolated-thoracoplasty-on-the-evolution-of-pulmonary-function-after-treatment-of-severe-thoracic-scoliosis
#16
Heiko Koller, Tobias L Schulte, Oliver Meier, Juliane Koller, Viola Bullmann, Wolfgang Hitzl, Michael Mayer, Tobias Lange, Jens Schmücker
INTRODUCTION AND PURPOSE: Isolated thoracoplasty (iTP) on the convex side is performed long time after scoliosis surgery has been performed. ITP is thought to cause a further decline in pulmonary function (PF); however, the amount of decline is ill defined. The objectives of this study were to examine the influence of iTP on the postoperative evolution of PF and rib hump reduction in patients that previously undergone scoliosis surgery. METHODS: Over an 11-year period, 75 patients underwent iTP...
February 8, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28141685/veptr-implantation-to-treat-children-with-early-onset-scoliosis-without-rib-abnormalities-early-results-from-a-prospective-multicenter-study
#17
Ron El-Hawary, Muayad Kadhim, Michael Vitale, John Smith, Amer Samdani, John M Flynn
BACKGROUND: Thoracoplasty and insertion of vertical expandable prosthetic titanium rib (VEPTR) for thoracic and spine distraction has been found to be effective in the treatment of early-onset scoliosis (EOS) with ribs anomalies and congenital vertebral anomalies. The aim of this study was to evaluate the efficacy of VEPTR in preventing further progression of scoliosis without impeding spinal growth in children with progressive EOS without rib abnormalities. METHODS: This is a prospective, multicenter, observational cohort study...
January 30, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28117436/safety-and-efficacy-of-single-stage-surgical-treatment-for-congenital-scoliosis-associated-with-intraspinal-mass
#18
Bo-Bo Zhang, Hui-Ren Tao, Tai-Lin Wu, Lin Wang, Chun-Guang Duan, Tao Zhang, Tao Li, Wei-Zhou Yang, Ming Liu, Jun Ma
For congenital scoliosis associated with intraspinal anomaly, surgical treatment is often advocated. However, the safety and efficacy of single-stage intraspinal mass resection and scoliosis correction remain unclear. The purpose of this study was to retrospectively evaluate the feasibility and risk factors of single-stage surgical treatment for congenital scoliosis associated with intraspinal mass. Patients' clinical records were reviewed for demographic and radiographic data, operating time, intraoperative blood loss, perioperative complications, and postoperative pathologic results...
January 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28088503/evidence-for-splice-transcript-variants-of-tmem165-a-gene-involved-in-cdg
#19
Marie-Ange Krzewinski-Recchi, Sven Potelle, Anne-Marie Mir, Dorothée Vicogne, Eudoxie Dulary, Sandrine Duvet, Willy Morelle, Geoffroy de Bettignies, François Foulquier
BACKGROUND: Defects in TMEM165 gene cause a type-II Congenital Disorder of Glycosylation affecting Golgi glycosylation processes. TMEM165 patients exhibit psychomotor retardation, important osteoporosis, scoliosis, irregular epiphyses and thin bone cortex. TMEM165 protein is highly conserved in evolution and belongs to the family of UPF0016 membrane proteins which could be an unique group of Ca(2+)/H(+) antiporters regulating Ca(2+) and pH homeostasis and mainly localized in the Golgi apparatus...
April 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28079273/abnormal-fetal-muscle-forces-result-in-defects-in-spinal-curvature-and-alterations-in-vertebral-segmentation-and-shape
#20
Rebecca A Rolfe, James H Bezer, Tyler Kim, Ahmed Z Zaidon, Michelle L Oyen, James C Iatridis, Niamh C Nowlan
The incidence of congenital spine deformities, including congenital scoliosis, kyphosis and lordosis, may be influenced by the in utero mechanical environment, and particularly by fetal movements at critical time-points. There is a limited understanding of the influence of fetal movements on spinal development, despite the fact that mechanical forces have been shown to play an essential role in skeletal development of the limb. This study investigates the effects of muscle forces on spinal curvature, vertebral segmentation and vertebral shape by inducing rigid or flaccid paralysis in the embryonic chick...
January 12, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
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