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Advances in Scoliosis, Spinal Deformity, and Other Spinal Disorders: 2nd Edition

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Orthopedics".

Deadline for manuscript submissions: 20 September 2025 | Viewed by 2240

Special Issue Editors

Dr. Zach Pennington

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Guest Editor
Department of Neurological Surgery, Mayo Clinic, Rochester, MN 55902, USA
Interests: spinal deformity; spinal oncology; spine tumor; bone health optimization; machine learning in spine surgery
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Daniel M. Sciubba

E-Mail Website
Guest Editor
Department of Neurosurgery, Zucker School of Medicine at Hofstra, Long Island Jewish Medical Center, North Shore University Hospital, Northwell Health, Manhasset, NY 11030, USA
Interests: spinal oncology; chordoma; predictive calculators and machine learning; perioperative optimization; adult spinal deformity; machine learning in spine surgery
Special Issues, Collections and Topics in MDPI journals
Dr. Benjamin D. Elder

E-Mail Website
Guest Editor
Department of Neurosurgery, Orthopedics and Biomedical Engineering, Mayo Clinic School of Medicine, 200 1st St. SW, Rochester, MN 55905, USA
Interests: degenerative spine pathology; complex adult spinal deformities; spinal stenosis; scoliosis/kyphosis; spine tumors; spinal cord tumors; spinal fusion; herniated discs; craniocervical junction pathology; normal pressure hydrocephalus; tissue engineering strategies for spinal fusion
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In response to the significant readership of the first volume “Advances in Scoliosis, Spinal Deformity and Other Spinal Disorders” (https://www.mdpi.com/journal/jcm/special_issues/60FK5H6NT2), we have decided to announce a 2nd volume of the Special Issue on this topic.

Spinal disorders are the leading cause of disability worldwide, with the World Health Organization (WHO) documenting lumbar pathology to account for 7.4% of all years lived with disability. While much of this pathology is nonoperative myofascial pain, with the progressive aging of the global population, there is a growing number of persons with adult spinal deformities, which are currently estimated to affect 6% of all adults 50 years and older. There is, therefore, a growing need to better understand which of these patients would benefit from surgical intervention, how potential surgical candidates can be best optimized preoperatively and how operative morbidity can be lowered given the frailty of many of these patients. In the present Special Issue for the Journal of Clinical Medicine, we aim to highlight current research focused on the management of adult spinal deformities. Specific areas of focus include the following: 1) the application of predictive analytics to patients with adult spinal deformities, focusing on preoperative risk stratification and the development of clinical tools that can assist with preoperative counseling; 2) musculoskeletal health optimization, including pre/postoperative bone health optimization and the incorporation of bone and musculoligamentous integrity into construct selection and mechanical complication prevention; and 3) the utilization of novel technologies and techniques, such as minimally invasive approaches (e.g., anterior column reconstruction) and individualized/patient-specific hardware, to improve outcomes.

Dr. Zach Pennington
Prof. Dr. Daniel M. Sciubba
Dr. Benjamin D. Elder
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • adult spinal deformity
  • scoliosis
  • spinal biomechanics
  • predictive calculators
  • bone health optimization
  • minimally invasive spine surgery
  • mechanical complication prevention
  • frailty

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Published Papers (2 papers)

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17 pages, 21370 KiB  
Article
The Paraspinal Sarcopenia at the Upper Instrumented Vertebra Is a Predictor of Discoligamentous but Not Bony Proximal Junctional Kyphosis
by Zach Pennington, Anthony L. Mikula, Abdelrahman Hamouda, Maria Astudillo Potes, Ahmad Nassr, Brett A. Freedman, Arjun S. Sebastian, Jeremy L. Fogelson and Benjamin D. Elder
J. Clin. Med. 2025, 14(4), 1207; https://doi.org/10.3390/jcm14041207 - 12 Feb 2025
Viewed by 559
Abstract
Background/Objectives: Both poor bone quality and paraspinal sarcopenia have been suggested as risk factors for proximal junctional kyphosis (PJK) at the upper instrumented vertebra (UIV) following long-segment thoracolumbar fusion. Methods: Adults ≥50 with a T1-6 UIV were identified, and data were [...] Read more.
Background/Objectives: Both poor bone quality and paraspinal sarcopenia have been suggested as risk factors for proximal junctional kyphosis (PJK) at the upper instrumented vertebra (UIV) following long-segment thoracolumbar fusion. Methods: Adults ≥50 with a T1-6 UIV were identified, and data were gathered on pre- and postoperative spinopelvic parameters, bone quality (using Hounsfield units and vertebral bone quality score), and paraspinal cross-sectional area at L3 and the UIV. PJK was defined by a ≥10° increase in the proximal junctional angle. Cox regressions were performed to identify PJK risk factors; PJK was subdivided into types 1–3 based on the Yagi–Boachie classification. Results: In total, 15/76 patients (median age 66; 72.4% female) experienced PJK; 10 experienced type 1, 4 experienced type 2, and one experienced type 3. Univariable Cox regression showed that PJK was negatively correlated with total paraspinal muscle CSA at the UIV (HR 0.74/100 mm2; 95% CI [0.57, 0.6]; p = 0.02). Lower total paraspinal CSA at L3 (HR 0.94/100 mm2; p = 0.07) and higher postoperative global tilt (HR 1.03; p = 0.09) also trended toward significance. Similarly, type 1 PJK was predicted by smaller total paraspinal CSA at the UIV (HR 0.64/100 mm2; [0.45, 0.92]; p = 0.02). Paraspinal CSA was not predictive of type 2 PJK, but lower HU at the UIV and UIV + 1 trended toward significance (HR 0.98/unit; p = 0.16). A comparison of type 1 and 2 PJK showed a higher average of paraspinal CSA and a lower average of HU at the UIV. Conclusions: Global alignment and paraspinal sarcopenia were most predictive of PJK, though paraspinal sarcopenia was only predictive of type 1. Type 2 may be better predicted by bone quality. Full article
(This article belongs to the Special Issue Advances in Scoliosis, Spinal Deformity, and Other Spinal Disorders: 2nd Edition)
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Review

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16 pages, 1466 KiB  
Review
Reviewing the Genetic and Molecular Foundations of Congenital Spinal Deformities: Implications for Classification and Diagnosis
by Diana Samarkhanova, Maxat Zhabagin and Nurbek Nadirov
J. Clin. Med. 2025, 14(4), 1113; https://doi.org/10.3390/jcm14041113 - 9 Feb 2025
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Abstract
Congenital spinal deformities (CSDs) are rare but severe conditions caused by abnormalities in vertebral development during embryogenesis. These deformities, including scoliosis, kyphosis, and lordosis, significantly impair patients’ quality of life and present challenges in diagnosis and treatment. This review integrates genetic, molecular, and [...] Read more.
Congenital spinal deformities (CSDs) are rare but severe conditions caused by abnormalities in vertebral development during embryogenesis. These deformities, including scoliosis, kyphosis, and lordosis, significantly impair patients’ quality of life and present challenges in diagnosis and treatment. This review integrates genetic, molecular, and developmental insights to provide a comprehensive framework for classifying and understanding CSDs. Traditional classification systems based on morphological criteria, such as failures in vertebral formation, segmentation, or mixed defects, are evaluated alongside newer molecular-genetic approaches. Advances in genetic technologies, including whole-exome sequencing, have identified critical genes and pathways involved in somitogenesis and sclerotome differentiation, such as TBX6, DLL3, and PAX1, as well as key signaling pathways like Wnt, Notch, Hedgehog, BMP, and TGF-β. These pathways regulate vertebral development, and their disruption leads to skeletal abnormalities. The review highlights the potential of molecular classifications based on genetic mutations and developmental stage-specific defects to enhance diagnostic precision and therapeutic strategies. Early diagnosis using non-invasive prenatal testing (NIPT) and emerging tools like CRISPR-Cas9 gene editing offer promising but ethically complex avenues for intervention. Limitations in current classifications and the need for further research into epigenetic and environmental factors are discussed. This study underscores the importance of integrating molecular genetics into clinical practice to improve outcomes for patients with CSDs. Full article
(This article belongs to the Special Issue Advances in Scoliosis, Spinal Deformity, and Other Spinal Disorders: 2nd Edition)
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