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1661
Obesity management in Prader–Willi syndrome: current perspectives
Published 2018-10-01“…The clinical picture includes short stature, multiple endocrine abnormalities (hypogonadism, growth hormone/insulin-like growth factor-I axis dysfunction, hypothyroidism, central adrenal insufficiency), dysmorphic features, scoliosis, osteoporosis, mental retardation, and behavioral and psychiatric problems. …”
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1662
Trematode infections in frogs: Do all cercarial morphotypes infect and induce effects on the common hourglass tree frog, <i>Polypedates</i> <i>cruciger</i>?
Published 2018-12-01“…Both cercariae types induced axial malformations such as kyphosis and scoliosis. The exposures incurred no changes to the size of tadpoles, but types H and I prolonged their growth period. …”
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1663
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1664
Morphometric analysis of dry human lumbar vertebrae
Published 2021-12-01“…As a result, various changes in the spine took place and the human spine became more prone to diseases such as scoliosis, spondylolisthesis, osteoporosis of vertebrae and many more. …”
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1665
Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the <i>NSD1</i> Gene and Literature Analysis in the Chinese Han Population
Published 2022-07-01“…Subsequent treatment and follow-up should focus on developmental retardation, epilepsy, and scoliosis.…”
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1666
Multidisciplinary Management of Rett Syndrome: Twenty Years’ Experience
Published 2023-08-01“…Data collected included age of Rett syndrome diagnosis, <i>MECP2</i> genotype, clinical features and medical comorbidities, such as sleep disturbance, seizures, breathing irregularities, scoliosis, mobility, hand stereotypies, hand function, constipation, feeding ability, use of gastrostomy, communication skills, QTc prolongation, anthropometry, and bruxism. …”
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1667
SLC39A8 gene encoding a metal ion transporter: discovery and bench to bedside
Published 2019-09-01“…Traits with which SLC39A8-deficiency variants are currently associated include Mn2+-deficient hypoglycosylation; numerous birth defects; Leigh syndrome-like mitochondrial redox deficiency; decreased serum high-density lipoprotein-cholesterol levels; increased body mass index; greater risk of coronary artery disease, hypotension, cardiovascular death, allergy, ischemic stroke, schizophrenia, Parkinson disease, inflammatory bowel disease, Crohn disease, myopia, and adolescent idiopathic scoliosis; systemic lupus erythematosus with primary Sjögren syndrome; decreased height; and inadvertent participation in the inflammatory progression of osteoarthritis.…”
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1668
Slight pelvic obliquity is normal in a healthy population: a cross‐sectional study
Published 2023-01-01“…Slight pelvic obliquity may be normal, and physicians should not always assume that it is caused by pain, scoliosis, or weakness of the abductors. Level of evidence III.…”
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2349
Published 2017-09-01“…RESULTS/ANTICIPATED RESULTS: Risk factors that we anticipate will be predictive of long-term clinical outcome include signs and symptoms at onset (bulging fontanel, splayed sutures, papilledema, up-gaze palsy, headache, vomiting, lethargy), head circumference above the 97th percentile, frontal-occipital horn ratio greater than 0.4, etiology of meningitis or neonatal intraventricular hemorrhage, central nervous system comorbidities (seizures, Chiari malformation, scoliosis, periventricular leukomalacia), preoperative infection or sepsis, and frequent shunt revisions or infections. …”
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1670
Operative strategies for ankylosing spondylitis-related thoracolumbar kyphosis: focus on the cervical stiffness, coronal imbalance and hip involvement
Published 2023-09-01“…Spinal-pelvic-femoral parameters were measured, Scoliosis Research Society outcome instrument-22 (SRS-22) was used and complications were recorded and analysed. …”
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1671
Low back pain in children and adolescents: Real life experience of 106 patients
Published 2020-12-01“…Sixty-two patients (58.4%) were diagnosed with non-specific low back pain, 24 (22.6%) with lumbar disc herniation, six (5.6%) with inflammatory low back pain, five (4.7%) with spondylolysis (with accompanying listhesis in two), five (4.7%) with scoliosis, and four (3.7%) with Scheuermann Disease. …”
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1672
Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus
Published 2022-09-01“…Abstract Objective We presented a non-consanguineous healthy Chinese couple with five pregnancies, three early miscarriages, the fetus II-2 and II-5 with similar abnormal phenotypes of fetal hydrops, scoliosis, fetal akinesia and polyhydramnios. This study aimed to uncover the molecular etiology of this family with a history of multiple adverse pregnancies. …”
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1673
A rare clinical case of surgical treatment of a periarticular cyst of the facet joint of the lumbar spine
Published 2019-08-01“…When examining the local status, a forced posture with a bowed head and torso forward was noted; smooth lumbar lordosis and antalgic right-sided scoliosis; tension of paravertebral muscles. Neurological examination revealed LVradiculopathy on the left with moderate paresis of the extensor muscles of the left foot and ipsilateral Lasgue's positive test. …”
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1674
Tratamiento de la escoliosis neuromuscular en niños pequeños con parálisis cerebral espástica grave: revisión sistemática de la bibliografía
Published 2022-06-01“…Materiales y Métodos: Búsqueda en PubMed, Google Scholar, Cochrane Library, BVS/BIREME, LILACS y SciELO, entre enero de 2009 y noviembre de 2020, con los descriptores: “cerebral palsy, scoliosis, early-onset, treatment”. Se eliminaron los artículos duplicados, no relacionados con la investigación, sin texto completo, con pocos pacientes con parálisis cerebral espástica, sin discriminación etiológica, sin resultados y con edad avanzada. …”
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1675
Two patients with congenital myasthenic syndrome caused by COLQ gene mutations and the consequent ColQ protein defect
Published 2023-02-01“…Results: The diagnosis of CMS was based on a symptom combination of fatigable muscle weakness, ptosis, scoliosis, and hypotonia, aggravation of muscle weakness after the neostigmine test, and a 46% decrement in repetitive nerve stimulation. …”
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1676
Imaging in a Rare Case of Neonatal Arterial Tortuosity Syndrome
Published 2023-12-01“…Like other connective tissue disorders, ATS can present with joint laxity, hernias, pectus excavatum, scoliosis or other musculoskeletal abnormalities, and ocular defects. …”
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1677
Adverse events of replacement therapy in children with growth hormone deficiency
Published 2023-06-01“…None of the children experienced serious adverse events such as scoliosis progression, slipped capital femoral epiphysis, edema, and impaired vital functions. …”
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1678
Ultrasonographic images of spina bifida before obstetric anesthesia: a case series
Published 2023-04-01“…Lumbar radiography before pregnancy showed congenital abnormalities such as incomplete fusion, scoliosis, rotation, and a notably small sacrum. Lumbar ultrasonography showed the same bone defect. …”
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Role of Magnetic Resonance Imaging in the Evaluation of Spinal Dysraphism
Published 2019-10-01“…Vertebral anomalies were the most common spinal anomalies in patients with congenital spinal lesions followed by spina bifida, tethered cord, scoliosis, syrinx and diastematomyelia. Of all the vertebral anomalies, spina bifida was the most common (73.3%).Lumbosacral spine was most common site of involvement in 11 cases (36.65%). …”
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1680
MYH3‐associated distal arthrogryposis zebrafish model is normalized with para‐aminoblebbistatin
Published 2020-11-01“…Heterozygous smyhc1R673H/+ embryos developed notochord kinks that progressed to scoliosis with vertebral fusions; motor deficits accompanied the disorganized and shortened slow‐twitch skeletal muscle myofibers. …”
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