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1.
Am J Hum Genet ; 111(5): 939-953, 2024 05 02.
Artigo em Inglês | MEDLINE | ID: mdl-38608674

RESUMO

Changes in gene regulatory elements play critical roles in human phenotypic divergence. However, identifying the base-pair changes responsible for the distinctive morphology of Homo sapiens remains challenging. Here, we report a noncoding single-nucleotide polymorphism (SNP), rs41298798, as a potential causal variant contributing to the morphology of the skull base and vertebral structures found in Homo sapiens. Screening for differentially regulated genes between Homo sapiens and extinct relatives revealed 13 candidate genes associated with basicranial development, with TBX1, implicated in DiGeorge syndrome, playing a pivotal role. Epigenetic markers and in silico analyses prioritized rs41298798 within a TBX1 intron for functional validation. CRISPR editing revealed that the 41-base-pair region surrounding rs41298798 modulates gene expression at 22q11.21. The derived allele of rs41298798 acts as an allele-specific enhancer mediated by E2F1, resulting in increased TBX1 expression levels compared to the ancestral allele. Tbx1-knockout mice exhibited skull base and vertebral abnormalities similar to those seen in DiGeorge syndrome. Phenotypic differences associated with TBX1 deficiency are observed between Homo sapiens and Neanderthals (Homo neanderthalensis). In conclusion, the regulatory divergence of TBX1 contributes to the formation of skull base and vertebral structures found in Homo sapiens.


Assuntos
Polimorfismo de Nucleotídeo Único , Proteínas com Domínio T , Proteínas com Domínio T/genética , Proteínas com Domínio T/metabolismo , Humanos , Animais , Camundongos , Síndrome de DiGeorge/genética , Homem de Neandertal/genética , Camundongos Knockout , Crânio/anatomia & histologia , Alelos , Coluna Vertebral/anatomia & histologia , Coluna Vertebral/anormalidades , Cromossomos Humanos Par 22/genética , Fenótipo
2.
Hum Mol Genet ; 33(9): 787-801, 2024 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-38280229

RESUMO

Adolescent idiopathic scoliosis (AIS) is the most common form of scoliosis, in which spinal curvature develops in adolescence, and 90% of patients are female. Scoliosis is a debilitating disease that often requires bracing or surgery in severe cases. AIS affects 2%-5.2% of the population; however, the biological origin of the disease remains poorly understood. In this study, we aimed to determine the function of a highly conserved genomic region previously linked to AIS using a mouse model generated by CRISPR-CAS9 gene editing to knockout this area of the genome to understand better its contribution to AIS, which we named AIS_CRMΔ. We also investigated the upstream factors that regulate the activity of this enhancer in vivo, whether the spatial expression of the LBX1 protein would change with the loss of AIS-CRM function, and whether any phenotype would arise after deletion of this region. We found a significant increase in mRNA expression in the developing neural tube at E10.5, and E12.5, for not only Lbx1 but also other neighboring genes. Adult knockout mice showed vertebral rotation and proprioceptive deficits, also observed in human AIS patients. In conclusion, our study sheds light on the elusive biological origins of AIS, by targeting and investigating a highly conserved genomic region linked to AIS in humans. These findings provide valuable insights into the function of the investigated region and contribute to our understanding of the underlying causes of this debilitating disease.


Assuntos
Escoliose , Animais , Camundongos , Humanos , Adolescente , Feminino , Masculino , Escoliose/genética , Rotação , Coluna Vertebral , Fenótipo , Genômica
3.
Evol Dev ; 26(1): e12460, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37804483

RESUMO

Spinal regionalization has important implications for the evolution of vertebrate body plans. We determined the variation in the number and morphology of vertebrae across the vertebral column (i.e., vertebral formula) for 63 snake species representing 13 families using intracolumnar variation in vertebral shape. Vertebral counts were used to determine the position of the heart, pylorus, and left kidney for each species. Across all species we observed a conspicuous midthoracic transition in vertebral shape, indicating four developmental domains of the precloacal vertebral column (cervical, anterior thoracic, posterior thoracic, and lumbar). Using phylogenetic analyses, the boundary between the anterior and posterior thoracic vertebrae was correlated with heart position. No associations were found between shifts in morphology of the vertebral column and either the pylorus or left kidney. We observed that among taxa, the number of preapex and postapex vertebrae could change independently from one another and from changes in the total number of precloacal vertebrae. Ancestral state reconstruction of the preapex and postapex vertebrae illustrated several evolutionary pathways by which diversity in the vertebral column and heart position have been attained. In addition, no conspicuous pattern was observed among the heart, pylorus, or kidney indicating that their relative positions to each other evolve independently. We conclude that snakes exhibit four morphologically distinct regions of the vertebral column. We discuss the implications of the forebody and hindbody vertebral formula on the morphological diversification of snakes.


Assuntos
Coluna Vertebral , Vertebrados , Humanos , Animais , Filogenia , Coluna Vertebral/anatomia & histologia , Serpentes/genética
4.
Evol Dev ; 26(1): e12466, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-38100136

RESUMO

Lissamphibians, represented today by frogs, salamanders, and caecilians, diverged deep in the tetrapod tree of life. Extensive morphological adaptations to disparate lifestyles have made linking extant lissamphibians to one another and to their extinct relatives difficult and controversial. However, the discovery of a feature on the atlas of the frog Xenopus laevis, may add to the small set of osteological traits that unite lissamphibians. In this study, we combine our observations of atlas development in X. laevis with a deep examination of atlantal interglenoid tubercle (TI) occurrence in fossil taxa. The TI is shown herein to occur transiently on the ossifying atlas of roughly one-third of X. laevis tadpoles but is absent in adults of this species. In ancestral character state estimations (ACSE), within the evolutionary context of lissamphibians as dissorophoid temnospondyls, this feature is found to be ancestrally shared among lissamphibians, its presence is uncertain in stem batrachians, and then the TI is lost in extant caecilians and frogs. However, our data suggests apparent TI loss around the origin of frogs may be explained by its ontogenetically transient nature. The only nonamphibian tetrapods with a TI are "microsaurs," and this similarity is interpreted as one of many convergences that resulted from convergent evolutionary processes that occurred in the evolution of "microsaurs" and lissamphibians. The TI is thus interpreted to be ancestral to lissamphibians as it is found to be present in some form throughout each extant lissamphibian clade's history.


Assuntos
Evolução Biológica , Urodelos , Animais , Filogenia , Anuros/anatomia & histologia , Fósseis
5.
Proc Biol Sci ; 291(2021): 20232868, 2024 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-38628132

RESUMO

Studies of vertebrate bone biomechanics often focus on skeletal adaptations at upper extremes of body mass, disregarding the importance of skeletal adaptations at lower extremes. Yet mammals are ancestrally small and most modern species have masses under 5 kg, so the evolution of morphology and function at small size should be prioritized for understanding how mammals subsist. We examined allometric scaling of lumbar vertebrae in the small-bodied Philippine endemic rodents known as cloud rats, which vary in mass across two orders of magnitude (15.5 g-2700 g). External vertebral dimensions scale with isometry or positive allometry, likely relating to body size and nuances in quadrupedal posture. In contrast to most mammalian trabecular bone studies, bone volume fraction and trabecular thickness scale with positive allometry and isometry, respectively. It is physiologically impossible for these trends to continue to the upper extremes of mammalian body size, and we demonstrate a fundamental difference in trabecular bone allometry between large- and small-bodied mammals. These findings have important implications for the biomechanical capabilities of mammalian bone at small body size; for the selective pressures that govern skeletal evolution in small mammals; and for the way we define 'small' and 'large' in the context of vertebrate skeletons.


Assuntos
Vértebras Lombares , Mamíferos , Ratos , Animais , Mamíferos/fisiologia , Osso e Ossos , Tamanho Corporal , Vertebrados
6.
J Anat ; 245(1): 27-34, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38317536

RESUMO

Up to now, there have been no publication standardizing the digital reconstruction of the modern human ribcage from commingled costo-vertebral material. Consequently, we designed a validated protocol based on anatomical features observed in the literature and the CT scanned ribcages of 10 adult European individuals. After quantifying the shape of these ribcages using 3D geometric morphometrics, we split each vertebra and rib within their corresponding (semi)landmarks. Subsequently, individual bones + (semi)landmarks were imported to LhpFusionBox, commingled and 3D reconstructed. To validate the accuracy of the protocol, we first reconstructed a randomly chosen ribcage three times and then compared these reconstructions to the rest of the sample. Since these reconstructions were closer to their original counterpart than to the others, the remaining sample was reconstructed once. Next, we tested the intra-observer error during reconstructing using the Procrustes distances among the original ribcages and the reconstructions. We observed that first each ribcage reconstruction was clustered to its original counterpart and second there was a learning curve showing an improvement in the reconstruction process over time. Subsequently, we explored general size and shape differences among the original and reconstructed ribcages through a study of centroid size and a permutation test on the Procrustes distances (10,000 permutations), respectively. Specific shape differences between both groups were further examined through a principal component analysis in shape space. None of these analyses found statistical differences between the original and reconstructed ribcages (p > 0.05). Eventually, we extracted the mean shapes of the original ribcages and the reconstructions in order to visualize potential deviations caused by the anatomical considerations of the researcher. These results demonstrate that the protocol is accurate enough to be used when reconstructing a disarticulated human ribcage.


Assuntos
Tomografia Computadorizada por Raios X , Humanos , Masculino , Adulto , Feminino , Imageamento Tridimensional/métodos , Caixa Torácica/anatomia & histologia , Caixa Torácica/diagnóstico por imagem , Costelas/anatomia & histologia , Costelas/diagnóstico por imagem
7.
J Anat ; 2024 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-39022807

RESUMO

Recent evidence suggests that the invasive air sac system evolved at least three times independently in avemetatarsalians: in pterosaurs, sauropodomorphs and theropods. Data from sauropodomorphs showed that the pneumatic architecture in vertebrae first developed in camellate-like trabeculae in the Triassic, later in camerate systems in Jurassic neosauropods, and finally camellate tissue in Cretaceous titanosaurs. This evolutionary trajectory has support from a considerable sampling of sauropodomorph taxa. However, the evolution of pneumatic bone tissues in Theropoda is less understood. We analyzed the computed tomography of Majungasaurus and Rahonavis, using densitometry rendering to differentiate the microarchitecture along the presacral axial skeleton of late Ceratosaurians and early Paravians. We also compared these results with scans of other theropod clades. Our analysis revealed an increase in pneumatic complexity in early paravians compared to the ceratosaurians. Majungasaurus presents some apneumatic neural spines, a condition also observed in Allosaurus. Majungasaurus also features some apneumatic centra despite the presence of lateral pneumatic fossae. This raises caution when evaluating PSP solely based on external morphology. We also found evidence of distinct patterns of PSP in maniraptorans. Considering that Majungasaurus, a late abelisaurid, inherited from their ceratosaurian ancestors, some apneumatic elements such as the neural spine and some centra, Rahonavis, an early paravian, took a different trajectory toward the full pneumatization of the axial skeleton. This characteristic provided paravians an advantage in gliding and flying. Also, unlike Sauropoda, pneumaticity in Theropoda apparently developed by increasing chamber volumes toward paravians. Similar studies on early Theropoda are needed to elucidate their condition and better describe the evolutionary trajectory of different groups.

8.
J Anat ; 245(2): 289-302, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38613221

RESUMO

The salt marsh harvest mouse (Reithrodontomys raviventris) is an endangered species, endemic to the San Francisco Bay Estuary, that co-occurs with the more broadly distributed species, the western harvest mouse (Reithrodontomys megalotis). Despite their considerable external morphological similarities, the northern subspecies of salt marsh harvest mice have relatively longer and thicker tails than do western harvest mice, which may be related to their abilities to climb emergent marsh vegetation to avoid tidal inundation. We used micro-CT to compare post-cranial skeletal anatomy between the salt marsh and western harvest mouse, to examine whether the salt marsh harvest mouse's restriction to brackish marshes is associated with skeletal adaptations for scansorial locomotion. We found that salt marsh harvest mice exhibited a deeper 3rd caudal vertebra, a more caudally located longest tail vertebra, craniocaudally longer tail vertebrae, and a longer digit III proximal phalanx than western harvest mice. These phalangeal and vertebral characteristics are known to decrease body rotations during climbing, increase contact with substrates, and decrease fall susceptibility in arboreal mammals, suggesting that the salt marsh harvest mouse may be morphologically specialized for scansorial locomotion, adaptive for its dynamic wetland environment.


Assuntos
Locomoção , Animais , Locomoção/fisiologia , Áreas Alagadas , Microtomografia por Raio-X , Osso e Ossos/anatomia & histologia , Osso e Ossos/fisiologia
9.
Eur Radiol ; 34(2): 1113-1122, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37594524

RESUMO

OBJECTIVES: To evaluate a dynamic half-Fourier acquired single turbo spin echo (HASTE) sequence following anterior cervical discectomy and fusion (ACDF) at the junctional level for adjacent segment degeneration comparing dynamic listhesis to radiographs and assessing dynamic cord contact and deformity during flexion-extension METHODS: Patients with ACDF referred for cervical spine MRI underwent a kinematic flexion-extension sagittal 2D HASTE sequence in addition to routine sequences. Images were independently reviewed by three radiologists for static/dynamic listhesis, and compared to flexion-extension radiographs. Blinded assessment of the HASTE sequence was performed for cord contact/deformity between neutral, flexion, and extension, to evaluate concordance between readers and inter-modality agreement. Inter-reader agreement for dynamic listhesis and impingement grade and inter-modality agreement for dynamic listhesis on MRI and radiographs was assessed using the kappa coefficient and percentage concordance. RESULTS: A total of 28 patients, mean age 60.2 years, were included. Mean HASTE acquisition time was 42 s. 14.3% demonstrated high grade dynamic stenosis (> grade 4) at the adjacent segment. There was substantial agreement for dynamic cord impingement with 70.2% concordance (kappa = 0.62). Concordance across readers for dynamic listhesis using HASTE was 81.0% (68/84) (kappa = 0.16) compared with 71.4% (60/84) (kappa = 0.40) for radiographs. Inter-modality agreement between flexion-extension radiographs and MRI assessment for dynamic listhesis across the readers was moderate (kappa = 0.41; 95% confidence interval: 0.16 to 0.67). CONCLUSIONS: A sagittal flexion-extension HASTE cine sequence provides substantial agreement between readers for dynamic cord deformity and moderate agreement between radiographs and MRI for dynamic listhesis. CLINICAL RELEVANCE STATEMENT: Degeneration of the adjacent segment with instability and myelopathy is one of the most common causes of pain and neurological deterioration requiring re-operation following cervical fusion surgery. KEY POINTS: • A real-time kinematic 2D sagittal HASTE flexion-extension sequence can be used to assess for dynamic listhesis, cervical cord, contact and deformity. • The additional kinematic cine sequence was well tolerated and the mean acquisition time for the 2D HASTE sequence was 42 s (range 31-44 s). • A sagittal flexion-extension HASTE cine sequence provides substantial agreement between readers for dynamic cord deformity and moderate agreement between radiographs and MRI for dynamic listhesis.


Assuntos
Vértebras Cervicais , Fusão Vertebral , Humanos , Pessoa de Meia-Idade , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/cirurgia , Vértebras Cervicais/patologia , Fenômenos Biomecânicos , Imageamento por Ressonância Magnética/métodos , Radiografia , Discotomia
10.
Eur Radiol ; 2024 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-38755438

RESUMO

OBJECTIVES: To compare the diagnostic performance and image quality of dual-energy computed tomography (DECT) with electron density (ED) image reconstruction with those of DECT with standard CT (SC) and virtual non-calcium (VNCa) image reconstructions, for diagnosing lumbar disc herniation (L-HIVD). METHODS: A total of 59 patients (354 intervertebral discs from T12/L1 to L5/S1; mean age, 60 years; 30 women and 29 men) who underwent DECT with spectral reconstruction and 3-T MRI within 2 weeks were enrolled between March 2021 and February 2022. Four radiologists independently assessed three image sets of randomized ED, SC, and VNCa images to detect L-HIVD at 8-week intervals. The coefficient of variance (CV) and the Weber contrast of the ROIs in the normal and diseased disc to cerebrospinal fluid space (NCR-normal/-diseased, respectively) were calculated to compare the image qualities of the noiseless ED and other series. RESULTS: Overall, 129 L-HIVDs were noted on MRI. In the detection of L-HIVD, ED showed a higher AUC and sensitivity than SC and VNCa; 0.871 vs 0.807 vs 833 (p = 0.002) and 81% vs 70% vs 74% (p = 0.006 for SC), respectively. CV was much lower in all measurements of ED than those for SC and VNCa (p < 0.001). Furthermore, NCR-normal and NCR-diseased were the highest in ED (ED vs SC in NCR-normal and NCR-diseased, p = 0.001 and p = 0.004, respectively; ED vs VNCa in NCR-diseased, p = 0.044). CONCLUSION: Compared to SC and VNCa images, DECT with ED reconstruction can enhance the AUC and sensitivity of L-HIVD detection with a lower CV and higher NCR. CLINICAL RELEVANCE STATEMENT: To our knowledge, this is the first study to quantify the image quality of noiseless ED images. ED imaging may be helpful for detecting L-HIVD in patients who cannot undergo MRI. KEY POINTS: ED images have diagnostic potential, but relevant quantitative analyses of image quality are limited. ED images detect disc herniation, with a better coefficient of variance and normalized contrast ratio values. ED images could detect L-HIVD when MRI is not an option.

11.
Eur Radiol ; 34(8): 5041-5048, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38206401

RESUMO

OBJECTIVES: To compare diagnostic accuracy of a deep learning artificial intelligence (AI) for cervical spine (C-spine) fracture detection on CT to attending radiologists and assess which undetected fractures were injuries in need of stabilising therapy (IST). METHODS: This single-centre, retrospective diagnostic accuracy study included consecutive patients (age ≥18 years; 2007-2014) screened for C-spine fractures with CT. To validate ground truth, one radiologist and three neurosurgeons independently examined scans positive for fracture. Negative scans were followed up until 2022 through patient files and two radiologists reviewed negative scans that were flagged positive by AI. The neurosurgeons determined which fractures were ISTs. Diagnostic accuracy of AI and attending radiologists (index tests) were compared using McNemar. RESULTS: Of the 2368 scans (median age, 48, interquartile range 30-65; 1441 men) analysed, 221 (9.3%) scans contained C-spine fractures with 133 IST. AI detected 158/221 scans with fractures (sensitivity 71.5%, 95% CI 65.5-77.4%) and 2118/2147 scans without fractures (specificity 98.6%, 95% CI 98.2-99.1). In comparison, attending radiologists detected 195/221 scans with fractures (sensitivity 88.2%, 95% CI 84.0-92.5%, p < 0.001) and 2130/2147 scans without fracture (specificity 99.2%, 95% CI 98.8-99.6, p = 0.07). Of the fractures undetected by AI 30/63 were ISTs versus 4/26 for radiologists. AI detected 22/26 fractures undetected by the radiologists, including 3/4 undetected ISTs. CONCLUSION: Compared to attending radiologists, the artificial intelligence has a lower sensitivity and a higher miss rate of fractures in need of stabilising therapy; however, it detected most fractures undetected by the radiologists, including fractures in need of stabilising therapy. Clinical relevance statement The artificial intelligence algorithm missed more cervical spine fractures on CT than attending radiologists, but detected 84.6% of fractures undetected by radiologists, including fractures in need of stabilising therapy. KEY POINTS: The impact of artificial intelligence for cervical spine fracture detection on CT on fracture management is unknown. The algorithm detected less fractures than attending radiologists, but detected most fractures undetected by the radiologists including almost all in need of stabilising therapy. The artificial intelligence algorithm shows potential as a concurrent reader.


Assuntos
Algoritmos , Inteligência Artificial , Vértebras Cervicais , Radiologistas , Sensibilidade e Especificidade , Fraturas da Coluna Vertebral , Tomografia Computadorizada por Raios X , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Vértebras Cervicais/lesões , Vértebras Cervicais/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Fraturas da Coluna Vertebral/diagnóstico por imagem , Adulto , Estudos Retrospectivos , Idoso , Aprendizado Profundo
12.
Int J Legal Med ; 138(3): 951-959, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38163831

RESUMO

Age estimation in living individuals around the age of 18 years is medico-legally important in undocumented migrant cases and in countries like South Africa where many individuals are devoid of identification documents. Establishing whether an individual is younger than 18 years largely influences the legal procedure that should be followed in dealing with an undocumented individual. The aim of this study was to combine dental third molar and anterior inferior apophysis ossification data for purposes of age estimation, by applying a decision tree analysis. A sample comprising of 871 black South African individuals (n = 446 males, 425 = females) with ages ranging between 15 and 24 years was analyzed using panoramic and cephalometric radiographs. Variables related to the left upper and lower third molars and cervical vertebral ring apophysis ossification of C2, C3, and C4 vertebrae analyzed in previous studies were combined in a multifactorial approach. The data were analyzed using a pruned decision tree function for classification. Male and female groups were handled separately as a statistically significant difference was found between the sexes in the original studies. A test sample of 30 individuals was used to determine if this approach could be used with confidence in estimating age of living individuals. The outcomes obtained from the test sample indicated a close correlation between the actual ages (in years and months) and the predicted ages (in years only), demonstrating an average age difference of 0.47 years between the corresponding values. This method showed that the application of decision tree analysis using the combination of third molar and cervical vertebral development is usable and potentially valuable in this application.


Assuntos
Determinação da Idade pelos Dentes , População Negra , Feminino , Humanos , Masculino , Determinação da Idade pelos Dentes/métodos , Vértebras Cervicais/diagnóstico por imagem , Árvores de Decisões , Dente Serotino/diagnóstico por imagem , Radiografia Panorâmica , África do Sul , Adolescente , Adulto Jovem
13.
J Endocrinol Invest ; 47(1): 131-140, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37296370

RESUMO

PURPOSE: Although epidemiological studies indicate increased fracture risk in women with alcohol-associated liver disease (AALD) and metabolic-associated fatty liver disease (MAFLD), data about their micro-scale bone features are still limited. We aimed to characterize bone quality changes in the anterior mid-transverse part of the first lumbar vertebral body collected from 32 adult postmenopausal females. Based on pathohistological assessment of the liver tissue, individuals were divided into AALD (n = 13), MAFLD (n = 9), and control group (n = 10). METHODS: We analyzed trabecular and cortical micro-architecture (using micro-computed tomography), bone mechanical properties (using Vickers microhardness tester), osteocyte lacunar network and bone marrow adiposity morphology (using optic microscopy). Data were adjusted to elude the covariant effects of advanced age and body mass index on our results. RESULTS: Our data indicated a minor trend toward deteriorated bone quality in MAFLD women, presented in impaired trabecular and cortical micro-architectural integrity, which could be associated with bone marrow adiposity alterations noted in these women. Additionally, we observed a significant decline in micro-architectural, mechanical, and osteocyte lacunar features in lumbar vertebrae collected from the AALD group. Lastly, our data indicated that vertebral bone deterioration was more prominent in the AALD group than in the MAFLD group. CONCLUSION: Our data suggested that MAFLD and AALD are factors that could play a part in compromised vertebral strength of postmenopausal women. Also, our data contribute to understanding the multifactorial nature of bone fragility in these patients and highlight the necessity for developing more effective patient-specific diagnostic, preventive, and therapeutic strategies.


Assuntos
Densidade Óssea , Hepatopatia Gordurosa não Alcoólica , Adulto , Humanos , Feminino , Microtomografia por Raio-X , Pós-Menopausa , Vértebras Lombares/diagnóstico por imagem
14.
J Clin Densitom ; 27(1): 101436, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37985274

RESUMO

The precision for spine bone mineral density (BMD) worsens as vertebrae are excluded, so recommendations are needed for least significant change (LSC) for spine BMDs based on fewer than 4 vertebrae. The task force recommends re-analysis of each facility's L1-L4 in-house precision study to determine the precision in order to calculate the LSC for each combination of 2 or 3 reported vertebrae. The task force recommended not reporting spine BMDs based on single vertebral bodies for either the diagnosis or monitoring of osteoporosis. Specific data for studies assessing the precision of two non-contiguous vertebrae are mixed, but ultimately the task force recommended that spine BMD based on 2 non-contiguous vertebrae can be used for the diagnosis and monitoring of osteoporosis.


Assuntos
Vértebras Lombares , Osteoporose , Humanos , Vértebras Lombares/diagnóstico por imagem , Absorciometria de Fóton , Densidade Óssea , Osteoporose/diagnóstico por imagem
15.
BMC Med Imaging ; 24(1): 62, 2024 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-38486185

RESUMO

OBJECTIVE: Early diagnosis of osteoporosis is crucial to prevent osteoporotic vertebral fracture and complications of spine surgery. We aimed to conduct a hybrid transformer convolutional neural network (HTCNN)-based radiomics model for osteoporosis screening in routine CT. METHODS: To investigate the HTCNN algorithm for vertebrae and trabecular segmentation, 92 training subjects and 45 test subjects were employed. Furthermore, we included 283 vertebral bodies and randomly divided them into the training cohort (n = 204) and test cohort (n = 79) for radiomics analysis. Area receiver operating characteristic curves (AUCs) and decision curve analysis (DCA) were applied to compare the performance and clinical value between radiomics models and Hounsfield Unit (HU) values to detect dual-energy X-ray absorptiometry (DXA) based osteoporosis. RESULTS: HTCNN algorithm revealed high precision for the segmentation of the vertebral body and trabecular compartment. In test sets, the mean dice scores reach 0.968 and 0.961. 12 features from the trabecular compartment and 15 features from the entire vertebral body were used to calculate the radiomics score (rad score). Compared with HU values and trabecular rad-score, the vertebrae rad-score suggested the best efficacy for osteoporosis and non-osteoporosis discrimination (training group: AUC = 0.95, 95%CI 0.91-0.99; test group: AUC = 0.97, 95%CI 0.93-1.00) and the differences were significant in test group according to the DeLong test (p < 0.05). CONCLUSIONS: This retrospective study demonstrated the superiority of the HTCNN-based vertebrae radiomics model for osteoporosis discrimination in routine CT.


Assuntos
Osteoporose , Fraturas por Osteoporose , Humanos , Absorciometria de Fóton , Densidade Óssea , Vértebras Lombares/diagnóstico por imagem , Redes Neurais de Computação , Osteoporose/diagnóstico por imagem , Fraturas por Osteoporose/diagnóstico por imagem , Radiômica , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Distribuição Aleatória
16.
Vet Pathol ; 61(2): 248-255, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37818973

RESUMO

This retrospective study aimed to characterize and determine the prevalence of spinal disease in nondomestic felids within a sanctuary population. A review of 304 postmortem examination reports in Panthera species from 2003 to 2021 revealed that 86/304 (28%) were diagnosed with spinal disease. Spinal lesions were categorized according to pathologic process: degenerative (78/86, 91%), developmental (8/86, 9%), inflammatory (6/86, 7%), or neoplastic (8/86, 9%). Degenerative lesions included intervertebral disk disease (IVDD; 66/78, 85%), spondylosis without concurrent IVDD (4/78, 5%), and idiopathic (noncompressive) degenerative myelopathies (8/78, 10%). Fourteen individuals had lesions in more than 1 category. Developmental cases were vertebral (4/8) or spinal cord (3/8) malformations or both (1/8). Inflammatory lesions included meningitis (4/6) and meningomyelitis (2/6). Neoplasia included vertebral multiple myeloma (4/8) and others (4/8). IVDD often involved multiple disks but primarily affected the cervical (41/66, 62%) and thoracic spine (32/66, 48%). A multivariate binary logistic model predicted the diagnosis of IVDD at postmortem examination, where odds of being affected were highest for males, lions (Panthera leo), and geriatric age group (>14 years). The spinal lesions documented in this study provide insight into high-risk signalment categories and predominant associated lesions affecting captive Panthera populations. Specifically, spinal disease, especially cervical IVDD, is common among Panthera species, and lions, males, and older felids are at increased risk.


Assuntos
Felidae , Degeneração do Disco Intervertebral , Deslocamento do Disco Intervertebral , Leões , Panthera , Animais , Masculino , Animais de Zoológico , Degeneração do Disco Intervertebral/veterinária , Deslocamento do Disco Intervertebral/epidemiologia , Deslocamento do Disco Intervertebral/veterinária , Estudos Retrospectivos , Feminino
17.
Neurosurg Rev ; 47(1): 333, 2024 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-39009953

RESUMO

Thoracolumbar (TL) fractures are among the most common vertebral fractures. These patients have high morbidity and mortality due to injury mechanisms and associated injuries. Spinal cord injury (SCI) is a prevalent complication of spinal fractures of the thoracolumbar region. AIM: To determine the pooled rate of thoracolumbar fractures and SCI in blunt trauma patients. METHODS: A systematic review and meta-analysis of observational studies were performed. The search was conducted in the PubMed, Scopus, Web of Science, and Embase databases. The authors screened and selected studies based on predefined inclusion and exclusion criteria. Studies were then evaluated for risk of bias using the JBI checklist. The pooled event rate and 95% confidence intervals (CI) were calculated using random effects models. Subgroup and meta-regression analyses were performed to explore sources of heterogeneity. RESULTS: Twenty-one studies fulfilled the selection criteria. The pooled rate of TL fractures was 8.08% (CI = 6.18-10.50%), with high heterogeneity (I2 = 99.98%, P < 0.001). Thoracic and lumbar fractures accounted for 45.23% and 59.01% of the TL fractures, respectively. Meta-regression revealed that the midpoint of the study period was a significant moderator. The pooled event rate of SCI among TL fracture patients was 15.81% (CI = 11.11 to 22.01%) with high heterogeneity (I2 = 98.31%, P < 0.001). The country of study was identified as a source of heterogeneity through subgroup analysis, and studies from the United States reported higher rates of SCI. Meta-regression revealed that the critical appraisal score was negatively associated with event rate. CONCLUSION: Our study evaluated the rate of TL fractures in multiple countries at different time points. We observed an increase in the rate of TL fractures over time. SCI results also seemed to vary based on the country of the original study.


Assuntos
Vértebras Lombares , Traumatismos da Medula Espinal , Fraturas da Coluna Vertebral , Vértebras Torácicas , Ferimentos não Penetrantes , Humanos , Vértebras Lombares/lesões , Traumatismos da Medula Espinal/epidemiologia , Traumatismos da Medula Espinal/etiologia , Fraturas da Coluna Vertebral/epidemiologia , Fraturas da Coluna Vertebral/complicações , Vértebras Torácicas/lesões , Ferimentos não Penetrantes/complicações , Ferimentos não Penetrantes/epidemiologia
18.
Eur Spine J ; 33(8): 3008-3016, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38879854

RESUMO

PURPOSE: To evaluate the association between facet joints cross-sectional area asymmetry (FCAA) and cervical intervertebral disc herniation (CDH). METHODS: Overall, we retrospectively recruited 390 consecutive patients with CDH who underwent surgical treatment at our institution and 50 normal participants. Clinical variables and radiological findings related to CDH were collected. RESULTS: Patients with CDH were more likely to have a higher absolute value of the facet asymmetry factor (FAF) (p < .001), in which the FAF value of the left group was significantly higher than the other groups (p < .001) and the right group was lower than the central group (p < .001). 9.62% (C3/4), 12.19% (C4/5), 8.70% (C5/6), and 8.14% (C6/7) were determined as cutoff values for each variable that maximized sensitivity and specificity. Furthermore, multivariate analysis showed that cross-sectional area asymmetry of the facet joint (FCAA) was an independent risk factor for the occurrence of CDH. Also, the Chi-square test showed a significant difference in the distribution of the degeneration classification of the disc between the facet-degenerated group and the nondegenerated group at C5/6 (p = 0.026) and C6/7 (p = 0.005) in the facet asymmetry (FA) group. CONCLUSIONS: FCAA is evaluated as an independent risk factor for CDH and associated with the orientation of disc herniation. And facet joint orientation may also play a role in cervical spine degeneration rather than facet joint tropism.


Assuntos
Vértebras Cervicais , Deslocamento do Disco Intervertebral , Articulação Zigapofisária , Humanos , Deslocamento do Disco Intervertebral/diagnóstico por imagem , Deslocamento do Disco Intervertebral/cirurgia , Masculino , Feminino , Pessoa de Meia-Idade , Articulação Zigapofisária/diagnóstico por imagem , Articulação Zigapofisária/cirurgia , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/cirurgia , Adulto , Estudos Retrospectivos , Idoso
19.
Eur Spine J ; 33(8): 2952-2959, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38922415

RESUMO

PURPOSE: Spinopelvic sagittal alignment is crucial for assessing balance and determining treatment efficacy in patients with adult spinal deformity (ASD). Only a limited number of reports have addressed spinopelvic parameters and lumbosacral transitional vertebrae (LSTV). Our primary objective was to study spinopelvic sagittal parameter changes in patients with LSTV. A secondary objective was to investigate clinical symptoms and quality of life (QOL) in patients with LSTV. METHODS: In this study, we investigated 371 participants who had undergone medical check-ups for the spine. LSTV was evaluated using Castellvi's classification, and patients were divided into LSTV+ (type II-IV, L5 vertebra articulated or fused with the sacrum) and LSTV- groups. After propensity score matching for demographic data, we analyzed spinopelvic parameters, sacroiliac joint degeneration, clinical symptoms, and QOL for these two participant groups. Oswestry Disability Index (ODI) scores and EQ-5D (EuroQol 5 dimensions) indices were compared between the two groups. RESULTS: Forty-four patients each were analyzed in the LSTV + and LSTV- groups. The LSTV + group had significantly greater pelvic incidence (52.1 ± 11.2 vs. 47.8 ± 10.0 degrees, P = 0.031) and shorter pelvic thickness (10.2 ± 0.9 vs. 10.7 ± 0.8 cm, P = 0.018) compared to the LSTV- group. The "Sitting" domain of ODI (1.1 ± 0.9 vs. 0.6 ± 0.7, P = 0.011) and "Pain/Discomfort" domain of EQ-5D (2.0 ± 0.8 vs. 1.6 ± 0.7, P = 0.005) were larger in the LSTV + group. CONCLUSION: There was a robust association between LSTV and pelvic sagittal parameters. Clinical symptoms also differed between the two groups in some domains. Surgeons should be aware of the relationship between LSTV assessment, radiographic parameters and clinical symptoms.


Assuntos
Vértebras Lombares , Qualidade de Vida , Sacro , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/anormalidades , Idoso , Sacro/diagnóstico por imagem , Adulto , Articulação Sacroilíaca/diagnóstico por imagem
20.
Eur Spine J ; 2024 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-39198285

RESUMO

PURPOSE: This study examined the predictive value of the gluteal muscle index (GMI) for diagnosing sarcopenia in patients with degenerative lumbar disease (DLD), highlighting the need for effective diagnostic markers in this population. METHODS: This prospective observational study included 202 elderly patients scheduled for lumbar spine surgery. Muscle indices for psoas, paraspinal, and gluteal muscles were measured using multiaxial computed tomography. Sarcopenia was diagnosed per the 2019 Asian Working Group for Sarcopenia (AWGS) criteria. Statistical analysis comprised univariate and multivariate logistic regression to identify predictors of sarcopenia. RESULTS: Of patients, 77% were diagnosed with sarcopenia. The GMI and psoas muscle index (PMI) were identified as significant predictors of sarcopenia in the univariate analysis. Multivariate analysis confirmed their predictive value, with higher indices correlating with a reduced risk of sarcopenia (GMI odds ratio [OR] = 0.95, 95% confidence interval [CI] = 0.92-0.97; PMI OR = 0.95, 95% CI = 0.92-0.98, both P < .001). CONCLUSION: The GMI serves as a reliable predictor of sarcopenia in elderly patients undergoing lumbar spine surgery for DLD, suggesting a significant role of gluteal muscles in diagnosing sarcopenia. Incorporating GMI into clinical assessments is critical to better manage and diagnose sarcopenia in this population.

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