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Congenital scoliosis

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https://www.readbyqxmd.com/read/28411587/novel-stac3-mutations-in-the-first-non-amerindian-patient-with-native-american-myopathy
#1
Michelle Grzybowski, Anne Schänzer, Alexander Pepler, Corina Heller, Bernd A Neubauer, Andreas Hahn
Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper excitation-contraction coupling in muscle. Here, we report the first non-Amerindian patient of Turkish ancestry, being compound heterozygous for the mutations c.862A>T (p.K288*) and c.432+4A>T (aberrant splicing with skipping of exon 4). Symptoms in NAM include congenital muscle weakness and contractures, progressive scoliosis, early ventilatory failure, a peculiar facial gestalt with mild ptosis and downturned corners of the mouth, short stature, and marked susceptibility to malignant hyperthermia...
April 15, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28409271/unique-presentation-of-cutis-laxa-with-leigh-like-syndrome-due-to-echs1-deficiency
#2
S Balasubramaniam, L G Riley, D Bratkovic, D Ketteridge, N Manton, M J Cowley, V Gayevskiy, T Roscioli, M Mohamed, T Gardeitchik, E Morava, J Christodoulou
Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade...
April 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28399050/veptr-are-we-reducing-respiratory-assistance-requirements
#3
Sarah B Nossov, Evan Curatolo, Robert M Campbell, Oscar H Mayer, Sumeet Garg, Patrick J Cahill
BACKGROUND: The assisted ventilation rating (AVR) indicates the degree of external respiratory support required in children with thoracic insufficiency syndrome (TIS) and early onset scoliosis. For skeletally immature patients with TIS, the vertical expandable prosthetic titanium rib (VEPTR) device can be used to improve lung volume and growth. We hypothesized that patients who underwent early thoracic reconstruction by VEPTR treatment had an improved respiratory status. METHODS: Preoperative and postoperative AVR ratings were prospectively collected in a multicenter study group and compared with determine change after VEPTR treatment...
April 10, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28379158/exome-sequencing-identified-a-novel-fbn2-mutation-in-a-chinese-family-with-congenital-contractural-arachnodactyly
#4
Guoling You, Bailing Zu, Bo Wang, Zhigang Wang, Yunlan Xu, Qihua Fu
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, camptodactyly, contrature of major joints, scoliosis, pectus deformities, and crumpled ears. The present study aimed to identify the genetic cause of a three-generation Chinese family with CCA. We successfully identified a novel missense mutation p.G1145D in the fibrillin-2 (FBN2) gene as the pathogenic mutation by whole exome sequencing (WES). The p.G1145D mutation occurs in the 12th calcium-binding epidermal growth factor-like (cbEGF) domain...
April 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28376819/the-therapeutic-characteristics-of-serial-casting-on-congenital-scoliosis-a-comparison-with-non-congenital-cases-from-a-single-center-experience
#5
Jun Cao, Xue-Jun Zhang, Ning Sun, Lin Sun, Dong Guo, Xin-Yu Qi, Yun-Song Bai, Bao-Sheng Sun
BACKGROUND: The therapeutic efficacy of serial casting on idiopathic scoliosis has been gradually documented. However, literatures on serial casting for congenital scoliosis (CS) remain extremely rare. This paper aimed to compare the treatment outcomes of serial casting between CS and non-CS patients to comprehensively evaluate the therapeutic characteristics of serial casting on CS patients. METHODS: A total of 23 early-onset scoliosis cases were included and divided into congenital scoliosis (CS, n = 8) and non-congenital group (non-CS, n = 15)...
April 4, 2017: Journal of Orthopaedic Surgery and Research
https://www.readbyqxmd.com/read/28374968/long-term-functional-and-mobility-outcomes-for-individuals-with-arthrogryposis-multiplex-congenita
#6
Hirmand Nouraei, Bonita Sawatzky, Megan MacGillivray, Judith Hall
Arthrogryposis multiplex congenita (AMC) is a birth defect that involves congenital joint contractures in two or more joints including the limbs, spine, and jaw. The purpose of our study was to identify long-term outcomes of adults with AMC. We recruited 177 participants from over 15 countries, making this the largest international study of adults with AMC. Participants provided demographic information including living situation and mobility and completed two standardized outcome measures, of quality of life and physical activity, using an online survey format...
April 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28358826/a-growing-animal-model-for-neonatal-repair-of-large-diaphragmatic-defects-to-evaluate-patch-function-and-outcome
#7
Mary Patrice Eastwood, Luc Joyeux, Savitree Pranpanus, Johannes Van der Merwe, Eric Verbeken, Stephanie De Vleeschauwer, Ghislaine Gayan-Ramirez, Jan Deprest
OBJECTIVES: We aimed to develop a more representative model for neonatal congenital diaphragmatic hernia repair in a large animal model, by creating a large defect in a fast-growing pup, using functional pulmonary and diaphragmatic read outs. BACKGROUND: Grafts are increasingly used to repair congenital diaphragmatic hernia with the risk of local complications. Growing animal models have been used to test novel materials. METHODS: 6-week-old rabbits underwent fiberoptic intubation, left subcostal laparotomy and hemi-diaphragmatic excision (either nearly complete (n = 13) or 3*3cm (n = 9)) and primary closure (Gore-Tex patch)...
2017: PloS One
https://www.readbyqxmd.com/read/28328134/somatic-pik3ca-mutations-in-seven-patients-with-pik3ca-related-overgrowth-spectrum
#8
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
#9
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
#10
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
#11
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
#12
https://www.readbyqxmd.com/read/28267910/-surgical-management-of-spinal-deformity-in-a-patient-with-escobar-syndrome-review-of-the-literature
#13
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
#14
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
#15
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
#16
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...
April 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
#17
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
#18
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
#19
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
#20
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
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