Lumbar Scheuermann’s disease found in a patient with osteogenesis imperfecta (OI) caused by a heterozygous mutation in COL1A2 (c.4048G > A): a case report

Background Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by increased bone fragility and a series of extraskeletal manifestations. Approximately 90 % of OI cases are caused by type I collagen variants encoded by the collagen type I alpha 1 (COL1A1) or type I alpha 2 (COL1A2) gene. Lumbar Scheuermann’s disease is an atypical type of Scheuermann’s disease accompanied by Schmorl’s nodes and irregular endplates but without pronounced kyphosis. Although the etiology of Scheuermann’s disease is unclear, genetic and environmental factors are likely. Case presentation Here, we report a 32-year-old male patient who experienced multiple brittle fractures. Gene sequencing revealed a heterozygous mutation, c.4048G > A (p.G1350S), in the COL1A2 gene, and the patient was diagnosed with OI. Magnetic resonance imaging of his thoracolumbar spine revealed multiple Schmorl’s nodes. Conclusions This is the first reported case of OI coexisting with the spinal presentation of Scheuermann’s disease. It is speculated that the COL1A2 gene mutation might be an underlying novel genetic cause of Scheuermann’s disease. In conclusion, this case demonstrates the relationship between Scheuermann’s disease and OI for the first time and enriches the genotype-phenotype spectrum of OI.

Epidemiology of Lumbar Degenerative Phenotypes of Children and Adolescents: A Large-Scale Imaging Study

Study Design: Cross-sectional study. Objective: Recently, there has been a rise in children and adolescents developing low back pain and/or sciatica. Degenerative lumbar spine MRI phenotypes can occur in this population but reports have been sporadic and the true incidence of such spine changes remains debatable. As such, the study aimed to address the epidemiology of MRI phenotypes of the lumbar spine in this young population. Methods: 597 children and adolescents with lumbar MRIs were included in the study. T1- and T2-weighted lumbar images from L1/2 to L5/S1 were analyzed in axial and sagittal planes. Global phenotype assessment was performed of each level and based on established nomenclature protocols. Results: The cohort consisted of 57.3% (342) boys and 42.7% (255) girls, with a mean age of 10.75 ± 5.25 years (range: 0 to 18 years). The prevalence of imaging findings of lumbar disc degeneration (LDD) and lumbar disc herniation (LDH) were 2.2% (95% CI: 0.93–3.43) and 5.8% (95%CI: 2.58-8.99), respectively. There was significant difference between each disc segment from L1/2 to L5/S1 for both LDD and LDH. Schmorl’s nodes were noted in 16 cases (2.7%, youngest case as 15 years), with 11 boys (68.8%) and most frequent segment as L3/4. Modic changes and high-intensity zones were absent in this cohort. Conclusions: LDD can emerge as early as the first decade of life with Schmorl’s nodes, without additional specific phenotypes, including Modic changes and high-intensity zones. The study provides valuable information of a unique age group that is often under-represented but equally important as adults.

PALEOPATHOLOGY AND “QUALITY OF LIFE” OF NON-ADULTS FROM THE SRUBNAYA CULTURE CEMETERIES OF SOUTHERN URAL

This article presents results of paleopathological study of non-adult skeletons from three Srubnaya culture cemeteries (Karanaevskiy, Nikolaevskiy and Chumarovo-1) located in the southwest of the Republic of Bashkortostan. The analyzed sample includes skeletal remains of 41 individuals from burials dated to the 1600–1400 BC. In this study solely skeletal pathologies are discussed without dental pathologies. The following groups of pathologies were recorded: abnormal cortical porosities and subperiosteal new bone formation, endocranial lesions, traces of chronic sinusitis, mastoiditis and otitis media, as well as markers of “physical stress” (including skeletal traumas). This work attempts to assess the “quality of life” of the non-adult Srubnaya culture population of the Southern Ural. The sample is characterized by an underrepresentation of infants and young children and increased proportion of adolescents, indicating that the burial grounds were formed according to some socially selective principles. The studied group is characterized by the absence of macroscopical manifestations of specific infections and reliably diagnosable cases of scurvy or rickets. High frequencies of anemia markers (cribra orbitalia) and chronic maxillary sinusitis are likely indicative not of a maladaptation, but, on the contrary, of the good enough adaptation of the non-adults of the Srubnaya culture population to the environmental factors. Well expressed “physical stress” markers (cortical defects, osteochondritis dissecans and Schmorl’s nodes), observed for the studied osteological sample, suggest that children as young as 6–7 years old were likely involved in household activities.

Paleopathological Research in Southern Patagonia: An Approach to Understanding Stress and Disease in Hunter-Gatherer Populations

This article reviews the most relevant data regarding evidence of stress and disease in native populations from Southern Patagonia and proposes future directions for paleopathological research. It focuses on the disease patterns in hunter-gatherer societies and the changes produced by contact and colonization. Studies of oral pathologies show a high frequency of dental attrition and low frequency of caries and antemortem tooth loss. Individuals with terrestrial dietary patterns show evidence of higher mechanical stress in the spine than those who participated in marine economies, based on the prevalence of Schmorl's nodes and vertebral osteophytosis. Porotic hyperostosis is more prevalent in individuals who had a marine diet and is probably related to nutritional impairment and parasitic infections. A higher frequency of metabolic stress was identified in individuals who lived in missions, perhaps because of declining quality in diet, hygiene, and living conditions. Paleoparasitological studies identified several species of parasites associated with human skeletons and terrestrial fauna. Moreover, recent studies suggested that treponematosis and tuberculosis were present in Patagonia since at least 1000 years BP. Future paleopathological research should increase the size and quality of studied samples and apply new methods and interpretive criteria. Detailed research into infections, degenerative joint diseases, and trauma (including violence episodes) has rarely been conducted.

Spondylolysis and spinal adaptations for bipedalism

Background and objectives The study reported here focused on the aetiology of spondylolysis, a vertebral pathology usually caused by a fatigue fracture. The goal was to test the Overshoot Hypothesis, which proposes that people develop spondylolysis because their vertebral shape is at the highly derived end of the range of variation within Homo sapiens. Methodology We recorded 3D data on the final lumbar vertebrae of H. sapiens and three great ape species, and performed three analyses. First, we compared H. sapiens vertebrae with and without spondylolysis. Second, we compared H. sapiens vertebrae with and without spondylolysis to great ape vertebrae. Lastly, we compared H. sapiens vertebrae with and without spondylolysis to great ape vertebrae and to vertebrae of H. sapiens with Schmorl’s nodes, which previous studies have shown tend to be located at the ancestral end of the range of H. sapiens shape variation. Results We found that H. sapiens vertebrae with spondylolysis are significantly different in shape from healthy H. sapiens vertebrae. We also found that H. sapiens vertebrae with spondylolysis are more distant from great ape vertebrae than are healthy H. sapiens vertebrae. Lastly, we found that H. sapiens vertebrae with spondylolysis are at the opposite end of the range of shape variation than vertebrae with Schmorl’s nodes. Conclusions Our findings indicate that H. sapiens vertebrae with spondylolysis tend to exhibit highly derived traits and therefore support the Overshoot Hypothesis. Spondylolysis, it appears, is linked to our lineage’s evolutionary history, especially its shift from quadrupedalism to bipedalism. Lay summary: Spondylolysis is a relatively common vertebral pathology usually caused by a fatigue fracture. There is reason to think that it might be connected with our lineage’s evolutionary shift from walking on all fours to walking on two legs. We tested this idea by comparing human vertebrae with and without spondylolysis to the vertebrae of great apes. Our results support the hypothesis. They suggest that people who experience spondylolysis have vertebrae with what are effectively exaggerated adaptations for bipedalism.

Lumbar spine Schmorl's nodes; prevalence in adults with back pain, and their relation to vertebral endplate degeneration

Background In 1927, Schmorl described a focal herniation of disc material into the adjacent vertebral body through a defect in the endplate, named as Schmorl’s node (SN). The aim of the study is to reveal the prevalence and distribution of Schmorl’s nodes (SNs) in the lumbar spine and their relation to disc degeneration disease in Kirkuk city population. Results A cross-sectional analytic study was done for 324 adults (206 females and 118 males) with lower back pain evaluated as physician requests by lumbosacral MRI at the Azadi Teaching Hospital, Kirkuk city, Iraq. The demographic criteria of the study sample were 20–71 years old, 56–120 kg weight, and 150–181 cm height. SNs were seen in 72 patients (22%). Males were affected significantly more than the females (28.8% vs. 18.8%, P = 0.03). SNs were most significantly affecting older age groups. L1–L2 was the most affected disc level (23.6%) and the least was L5–S1 (8.3%). There was neither a significant relationship between SN and different disc degeneration scores (P = 0.76) nor with disc herniation (P = 0.62, OR = 1.4), but there was a significant relation (P = 0.00001, OR = 7.9) with MC. Conclusion SN is a frequent finding in adults’ lumbar spine MRI, especially in males; it is related to vertebral endplate bony pathology rather than discal pathology.