Full Text Journal Articles about
Infantile Scoliosis

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Does static trunk motion analysis reflect its true position during daily activities in adolescent with idiopathic scoliosis?

Sébastien Pesenti, Solène Prost, Vincent Pomero, Guillaume Authier, Lionel Roscigni, Elke Viehweger, Benjamin Blondel, Jean-Luc Jouve,

INTRODUCTION:Adolescent idiopathic scoliosis is common condition in pediatric orthopedics that is generally analyzed with standard radiographs. However, the conditions under which the radiographs are made are completely different than the position that patients use during day-to-day activities. We hypothesized that the trunk's static position differs from its dynamic one. The ... Read more >>

Orthop Traumatol Surg Res (Orthopaedics & traumatology, surgery & research : OTSR)
[2020, :]

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Spondylometaphyseal Dysplasia, Corner Fracture Type

Jade England, Ashley McFarquhar, Philippe M Campeau,

CLINICAL CHARACTERISTICS:Spondylometaphyseal dysplasia, corner fracture type (SMDCF) is a skeletal dysplasia characterized by short stature and a waddling gait in early childhood. Short stature may be present at birth or develop in early infancy. Individuals may present with short limbs and/or short trunk. Radiographic features include enlargement and corner fracture-like ... Read more >>

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Use of the Microcuff® During General Anesthesia for Patients With Scoliosis.

Toshiyuki Kishimoto, Shintaro Hayashi, Yasunori Nakanishi, Takashi Goto, Kensuke Kosugi, Satoru Sakurai,

Scoliosis may often be associated with a variety of cardiovascular and respiratory conditions or diseases, and depending on the severity of the spinal deformity, it may also complicate anesthetic management because of the difficulty of neck extension and tracheal deformity. Therefore, patients with scoliosis may require careful perioperative anesthetic considerations. ... Read more >>

Anesth Prog (Anesthesia progress)
[2020, 67(1):23-27]

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First person – Zhaoyang Liu.

ABSTRACTFirst Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Zhaoyang Liu is first author on ‘Regulation of terminal hypertrophic chondrocyte differentiation in Prmt5 mutant mice modeling infantile idiopathic scoliosis’, ... Read more >>

Dis Model Mech (Disease models & mechanisms)
[2019, 12(12):]

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Top-ten tips for managing nutritional issues and gastrointestinal symptoms in children with neurological impairment.

Valeria Dipasquale, Frederic Gottrand, Peter B Sullivan, Claudio Romano,

The prevalence of children with neurological impairment (NI) presenting feeding difficulties and gastrointestinal symptoms is rising. The most recent guidelines recommend early nutritional assessment and intervention in order to prevent undernutrition and growth failure, along with the proper diagnosis and treatment of some frequent gastrointestinal symptoms, such as gastroesophageal reflux ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2020, 46(1):35]

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Magnetic Controlled Growth Rods in the Treatment of Scoliosis: Safety, Efficacy and Patient Selection.

Athanasios I Tsirikos, Simon B Roberts,

AbstractEarly-onset scoliosis is defined as a spinal curvature greater than 10° in children prior to 10 years of age. Untreated EOS may lead to progressively severe spinal deformity, impaired pulmonary development, restrictive lung disease, and both increased morbidity and mortality. Limitations of established conservative treatments include inability to correct severe ... Read more >>

Med Devices (Auckl) (Medical Devices (Auckland, N.Z.))
[2020, 13:75-85]

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Idiopathic scoliosis.

Federico Canavese,

Ann Transl Med (Annals of translational medicine)
[2020, 8(2):21]

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A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.

Justyna A Karolak, Tomasz Gambin, Engela M Honey, Tomas Slavik, Edwina Popek, Paweł Stankiewicz,

BACKGROUND:Application of whole genome sequencing (WGS) enables identification of non-coding variants that play a phenotype-modifying role and are undetectable by exome sequencing. Recently, non-coding regulatory single nucleotide variants (SNVs) have been reported in patients with lethal lung developmental disorders (LLDDs) or congenital scoliosis with recurrent copy-number variant (CNV) deletions at ... Read more >>

BMC Med Genomics (BMC medical genomics)
[2020, 13(1):34]

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Serial elongation derotation flexion casting in children with infantile and juvenile scoliosis.

Federico Canavese, Alain Dimeglio,

Infantile (IS) and juvenile scoliosis (JS) are among the most challenging conditions pediatric orthopedic surgeons are facing in the present days. However, the best treatment of IS and JS is still debated and it remains controversial, at least for some aspects. Untreated early onset spinal deformities may lead to pulmonary ... Read more >>

Ann Transl Med (Annals of translational medicine)
[2020, 8(2):24]

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Standard and magnetically controlled growing rods for the treatment of early onset scoliosis.

Ilkka J Helenius,

Distraction based spinal instrumentation represents the most common and standard surgical technique to correct early onset scoliosis (EOS), i.e., scoliosis which has been diagnosed before the age of 10 years. Surgical treatment of EOS aims at controlling spinal deformity while maintaining spinal growth which is mandatory for the development of ... Read more >>

Ann Transl Med (Annals of translational medicine)
[2020, 8(2):26]

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Refining critical regions in 15q24 microdeletion syndrome pertaining to autism.

Yi Liu, Yanqing Zhang, Mehdi Zarrei, Rui Dong, Xiaomeng Yang, Dongmei Zhao, Stephen W Scherer, Zhongtao Gai,

Chromosome 15q24 microdeletion syndrome is characterized by developmental delay, facial dysmorphism, hearing loss, hypotonia, recurrent infection, and other congenital malformations including microcephaly, scoliosis, joint laxity, digital anomalies, as well as sometimes having autism spectrum disorder (ASD) and attention deficit hyperactivity disorder. Here, we report a boy with a 2.58-Mb de ... Read more >>

Am. J. Med. Genet. B Neuropsychiatr. Genet. (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics)
[2020, :]

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Prevalence of Hip Dysplasia and Associated Conditions in Children Treated for Idiopathic Early-onset Scoliosis-Don't Just Look at the Spine.

Matthew S Talmage, Alexandra N Nielson, John A Heflin, Jacques L D'Astous, Graham T Fedorak,

BACKGROUND:Hip dysplasia, congenital muscular torticollis, plagiocephaly, and metatarsus adductus are known to be associated. The etiology of infantile idiopathic scoliosis and its association with the aforementioned conditions is unknown. This study reviews a series of infantile scoliosis patients to address this gap. METHODS:The medical records of all patients treated with ... Read more >>

J Pediatr Orthop (Journal of pediatric orthopedics)
[2020, 40(1):e49-e52]

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Risk Factors for Prolonged Postoperative Opioid Use After Spinal Fusion for Adolescent Idiopathic Scoliosis.

Scott Yang, Brian C Werner,

BACKGROUND:Opioids are commonly used after posterior spinal instrumented fusion (PSIF) for adolescent idiopathic scoliosis (AIS). Prescription opioids use can potentially lead to misuse, abuse, dependence, and overdose death. Prolonged opioid use has not been extensively studied in the postoperative AIS population. The purpose of this study is to identify risk ... Read more >>

J Pediatr Orthop (Journal of pediatric orthopedics)
[2019, 39(10):500-504]

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The immature spine: growth and idiopathic scoliosis.

Alain Dimeglio, Federico Canavese,

Untreated progressive scoliosis can have negative effects on the growing spine as asymmetrical forces will act on the growth plates of the vertebral column (>130 growth plates). Spinal growth can be considered as a mixture of hierarchy, synchronization, and harmony: the slightest error can lead to a complex malformation; it ... Read more >>

Ann Transl Med (Annals of translational medicine)
[2020, 8(2):22]

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Regulation of terminal hypertrophic chondrocyte differentiation in Prmt5 mutant mice modeling infantile idiopathic scoliosis.

Zhaoyang Liu, Janani Ramachandran, Steven A Vokes, Ryan S Gray,

Idiopathic scoliosis (IS) is the most common type of musculoskeletal defect affecting children worldwide, and is classified by age of onset, location and degree of spine curvature. Although rare, IS with onset during infancy is the more severe and rapidly progressive form of the disease, associated with increased mortality due ... Read more >>

Dis Model Mech (Disease models & mechanisms)
[2019, 12(12):]

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Kaposiform Hemangioendothelioma in Adolescent-Onset Scoliosis: A Case Report and Review of Literature.

Junho Kim, Yeon Ho Kim, Hyoungmin Kim, Bong-Soon Chang, Choon-Ki Lee, Sam Yeol Chang,

Background and Objectives. Kaposiform hemangioendothelioma (KHE) is a vascular tumor of very low incidence, which occurs mostly in children and infants. The tumor is recognized for its locally aggressive, yet rarely metastatic behavior. It may cause consumptive coagulopathy known as Kasabach-Merritt phenomenon. We report a distinctive case, where an 11-year-old ... Read more >>

Case Rep Orthop (Case reports in orthopedics)
[2020, 2020:1839053]

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Management and current status of spinal muscular atrophy: a retrospective multicentre claims database analysis.

Josep Darbà,

INTRODUCTION:The interest in patient demographics and disease management has increased in the past years due to their utility in developing measures that allow healthcare providers to reflect disease complexity. OBJECTIVE:To revise the current status of spinal muscular atrophy in the region of Catalonia, and to validate the utility of the ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):8]

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Treatment of early-onset scoliosis: techniques, indications, and complications.

Yan-Bin Zhang, Jian-Guo Zhang,

The treatments for early-onset scoliosis (EOS) remain great challenges for spine surgeons. This study aimed to comprehensively review the treatments for EOS, especially the advancements made in the last decade. Current studies on EOS were retrieved through a search on PubMed, UpToDate, the Web of Science Core Collection and Scopus ... Read more >>

Chin. Med. J. (Chinese medical journal)
[2020, 133(3):351-357]

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Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia.

Yang Xu, Li Li, Chun Wang, Hua Yue, Hao Zhang, Jiemei Gu, Weiwei Hu, Lianyong Liu, Zhenlin Zhang,

COL2A1-related disorders represent a heterogeneous group of skeletal dysplasias with a wide phenotypic spectrum. Our aim is to characterize the clinical and molecular phenotypes of Chinese patients with COL2A1-related dysplasia and to explore their phenotype-genotype relations. Clinical data were collected, physical examinations were conducted, and X-ray radiography and genetic analyses ... Read more >>

Int. J. Biol. Sci. (International journal of biological sciences)
[2020, 16(5):859-868]

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Novel biallelic variants in MSTO1 associated with mitochondrial myopathy.

Laura Schultz-Rogers, Alejandro Ferrer, Nikita R Dsouza, Michael T Zimmermann, Benn E Smith, Eric W Klee, Radhika Dhamija,

Mitochondrial disorders are caused by nuclear and mitochondrial pathogenic variants leading to defects in mitochondrial function and cellular respiration. Recently, the nuclear-encoded mitochondrial fusion gene MSTO1 (Misato 1) has been implicated in mitochondrial myopathy and ataxia. Here we report on a 30-yr-old man presenting with a maternally inherited NM_018116.3:c.651C>G, p.F217L ... Read more >>

Cold Spring Harb Mol Case Stud (Cold Spring Harbor molecular case studies)
[2019, 5(6):]

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Three rare disease diagnoses in one patient through exome sequencing.

Alejandro Ferrer, Laura Schultz-Rogers, Charu Kaiwar, Jennifer L Kemppainen, Eric W Klee, Ralitza H Gavrilova,

Diagnostic exome sequencing yields a single genetic diagnosis in ∼30% of cases, and according to recent studies the prevalence of identifying two genetic conditions in a single individual range between 4.6% and 7%. We present a patient diagnosed with three different rare conditions, each explained by a pathogenic variant in ... Read more >>

Cold Spring Harb Mol Case Stud (Cold Spring Harbor molecular case studies)
[2019, 5(6):]

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Aymé-Gripp Syndrome

Shivarajan Manickavasagam Amudhavalli, Randi Gadea, Karen Gripp,

CLINICAL CHARACTERISTICS:Aymé-Gripp syndrome is classically defined as the triad of bilateral early cataracts, sensorineural hearing loss, and characteristic facial features in combination with neurodevelopmental abnormalities. The facial features are often described as "Down syndrome-like" and include brachycephaly, flat facial appearance, short nose, long philtrum, narrow mouth, and low-set and posteriorly ... Read more >>

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CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy.

Martyna Jakimiec, Justyna Paprocka, Robert Śmigiel,

CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional CDKL5 protein, i.e., serine-threonine kinase (previously referred to as STK9), or its complete absence. The clinical picture is characterized by epileptic seizures (that start within the first three months of life and most often ... Read more >>

Brain Sci (Brain sciences)
[2020, 10(2):]

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Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966.

Christina Bergqvist, Amandine Servy, Laurence Valeyrie-Allanore, Salah Ferkal, Patrick Combemale, Pierre Wolkenstein, ,

Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations which lead to significant morbidity or mortality. Indeed, NF1 patients are at an increased risk of malignancy and ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):37]

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[Evaluation of inferior mesenteric vessel and ureter by contrast-enhanced abdominal pelvic CT and its clinical influence on laparoscopic rectal surgery].

S Zuo, K Wang, J H Li, H An, X C Guo, X Wang,

Objective: To assess the anatomic relationship of inferior mesenteric artery (IMA)/inferior mesenteric vein (IMV) with ureter by contrast-enhanced abdominal pelvic CT, in order to provide guidance for vascular management and ureteral protection in laparoscopic rectal surgery. Methods: A retrospective cohort study was conducted. Image data of contrast-enhanced abdominal pelvic CT ... Read more >>

Zhonghua Wei Chang Wai Ke Za Zhi (Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery)
[2020, 23(3):294-299]

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