The prevalence of scoliosis in people with cystic fibrosis (CF) seems to be greater than in the normal population. Over the last two years, a screening for spinal deformities was carried out in patients with CF aged 5 to 18 years, followed up at the CF regional Centre in Parma (Italy). Forty-three patients (twenty-seven males, mean age: 11.8 ± 4.5 years) were enrolled in the study. Nine patients (20.9%) were diagnosed with scoliosis, with a mean Cobb angle of 20.8 ± 9.4 (12-38°). Five patients (11.6%) were diagnosed with a postural kyphosis attitude and one with pathological fixed kyphosis. All patients with scoliosis and postural kyphosis started daily physiotherapeutic scoliosis-specific exercises (PSSE). Compared to people without CF, the prevalence of scoliosis in our paediatric CF population seems to be higher and more present in males; the curves were thoracic and mostly right-sided. CF disease, hyposthenic postural attitude and sedentary lifestyle can contribute to the pathogenesis of this musculoskeletal alteration. Spinal deformities may negatively affect pulmonary function, resulting in disability, pain and a decreased quality of life. Since the prevention of musculoskeletal deformities is easier than restoration, in CF population targeted screening during growth and interventions, including regular physical exercise, are mandatory.
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http://dx.doi.org/10.3390/children11030321 | DOI Listing |
Clin Neurol Neurosurg
December 2024
Department of Neurosurgery, Tufts Medical Center, Tufts University School of Medicine, Boston, MA 02111, USA.
Objective: Controversy exists regarding treatment of symptomatic low-grade spondylolisthesis (LGS). Both one- and two-stage fusions are commonly performed, but it is unclear if one approach is superior. We aim to compare the satisfaction rates and patient-reported outcomes (PROs) in patients with LGS undergoing one- versus two-stage lumbar spine surgery.
View Article and Find Full Text PDFMol Biol Rep
January 2025
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square House, London, WC1N 3BG, UK.
Background: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive disorder caused by impaired sterol biosynthesis due to nonmosaic hypomorphic EBP variants. MEND syndrome is characterized by variable clinical manifestations including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
Rett syndrome (RS) is a rare neurodevelopmental disorder primarily caused by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene, responsible for encoding MECP2 which plays a pivotal role in regulating gene expression. The neurological and non-neurological manifestations of RS vary widely in severity depending on the specific mutation type. Bone complications, mostly scoliosis but also osteoporosis, hip displacement, and a high rate of fractures, are among the most prevalent non-neurological comorbidities observed in girls with RS.
View Article and Find Full Text PDFCureus
January 2025
Department of Orthopaedic Surgery, Fukushima Medical University School of Medicine, Fukushima, JPN.
Purpose: Worsening sagittal alignment of the spine, particularly kyphosis, may cause difficulty in assuming a supine position, restricting sleeping posture and movement and potentially leading to sleep disturbances. However, no studies have explored the relationship between sagittal spinal alignment and sleep disturbance. This study aimed to clarify the relationship between sagittal spinal alignment and sleep disturbance.
View Article and Find Full Text PDFActa Neurochir (Wien)
January 2025
Department of Orthopaedics & Traumatology, Haydarpasa Numune Training and Research Hospital, Istanbul, Turkey.
Background: The aim of this study is to examine the association between adding-on (AO) and disc degeneration(DD) of distal unfused levels in Lenke 3 C, 5 C, 6 C adolescent idiopathic scoliosis (AIS) patients with a follow-up of at least two years by comparing preoperative and postoperative magnetic resonance imaging (MRI).
Methods: 47 AIS patients (32 females and 15 males) with structural thoracolumbar/lumbar (TL/L) curves treated with long segment thoracolumbar fusion were retrospectively evaluated. Patients were divided into two groups according to the occurrence of the AO (AO and Non-AO groups).
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