Non-contiguous Rare Presentation of Spinal Tuberculosis: A Case Report.

Spinal tuberculosis (TB), also known as Pott's disease, is a severe form of extrapulmonary TB that affects the vertebral bodies and intervertebral discs. While the typical presentation involves the contiguous involvement of multiple vertebrae, atypical forms, such as non-contiguous multilevel spinal TB (NMLST), can occur. However, diagnosing spinal TB poses challenges due to its gradual onset, nonspecific symptoms, and varying imaging results. The timely diagnosis and treatment of spinal TB are critical to prevent serious consequences, including vertebral damage, irreversible neurological impairment, or even death. In this report, we present the case of a 58-year-old South Asian female who presented with several months of back pain, fatigue, and weight loss. Despite initially negative TB test results, spinal magnetic resonance imaging (MRI) raised suspicion of NMLST, which was later confirmed by bone biopsy. This case highlights the complexities of diagnosing and managing atypical spinal TB presentations while discussing the case findings and reviewing relevant research.

Non-contiguous multilevel spinal tuberculosis: A case report of unusual spinal tuberculosis resembling spinal metastasis.

Spinal tuberculosis (TB) is diagnostically challenging, particularly in atypical forms. Non-contiguous multilevel spinal TB (NMLST) is a rare presentation of spinal TB, mimicking spinal malignancies. We reported an unusual NMLST case with a paraspinal and epidural abscess in a young patient with misleading clinical and imaging presentations.

Floating Thoracic Spine Due to Noncontiguous Fracture-Dislocations of the Thoracolumbar Spine.

The thoracolumbar spine is the most commonly afflicted area in vertebral column injuries. Here we bring up a case of a 20-year-old male who presented to our emergency department with a history of a high-velocity road traffic accident with noncontiguous two-level fracture-dislocations of the thoracolumbar spine with blunt trauma to the chest. The patient was managed with posterior reduction and instrumented postero-lateral fusion. Such an injury pattern has been reported only rarely in the literature. This report expects to highlight the unusual fracture pattern of a common injury and the challenges of managing such severe injuries intra-operatively and in the post-operative period.

Traumatic cervical spine fracture patterns on CT: a retrospective analysis at a level 1 trauma center.

PURPOSE: The purpose of our study was to determine common acute traumatic cervical spine fracture patterns on CT cervical spine (CTCS). METHODS: We retrospectively reviewed 1091 CTCS positive for traumatic fractures performed over a 10-year period at a level 1 trauma center. Fractures were classified by vertebral level, laterality, and anatomic location (anterior/posterior arch, body, odontoid, pedicle, facet, lateral mass, lamina, spinous process, transverse foramina, and transverse processes). RESULTS: C2 was the most commonly fractured vertebra (38% of all studies), followed by C7 (32.4%). 48.7% of studies had upper cervical spine (C1 and/or C2) fractures. 39.7% of positive studies involved > 1 vertebral level. Conditioned on fractures at one cervical level, the probability of fracture was greatest at adjacent levels with a 50% chance of sustaining a C7 fracture with C6 fracture. However, 31.3% (136) of studies with multi-level fractures had non-contiguous fractures. The most common isolated vertebral process fracture was of the transverse process, seen in 89 (8.2%) studies at a single level, 27 (2.5%) studies at multiple levels. Subaxial spine vertebral process fractures outnumbered body fractures with progressive dominance of vertebral process fracture down the spine. CONCLUSION: C2 was the most commonly fractured vertebral level. Multi-level traumatic cervical spine fractures constituted 40% of our cohort, most commonly at C6/C7 and C1/C2. Although the conditional probability of concurrent fracture in studies with multi-level fractures was greatest in contiguous levels, nearly one-third of multi-level fractures involved non-contiguous fractures.

Complex genomic alterations and intellectual disability: an interpretative challenge.

BACKGROUND: Complex chromosomal rearrangements (CCRs) are structural rearrangements involving more than three chromosomes or having more than two breaks; approximately 70% are not associated with any clinical phenotype. Here, we describe a CCR segregating in a two-generation family. METHOD: A 4-year-old male was evaluated for developmental delay, mild intellectual disability and epicanthus. Karyotype, fluorescence in situ hybridisation (FISH) analysis and array comparative genomic hybridisation (aCGH) analysis were performed on the patient and of all family members. RESULT: Array CGH analysis of the proband detected two non-contiguous genomic gains of chromosome 2 at bands q32.3q33.2 and bands q36.1q36.3. Both karyotype and FISH analysis revealed a recombinant chromosome 2 with a direct insertion of regions q32.3q33.2 and q36.1q36.3 into region q12. Both of these regions were also present in their original location. Karyotype and FISH analysis of the father revealed a de novo direct insertion of regions q32.3q33.2 and q36.1q36.3 into region q12. Moreover, a de novo balanced translocation involving the q arm of the same chromosome 2 and the p arm of chromosome 10 was observed in the father of the proband. The single nucleotide polymorphism (SNP) array analysis and haplotype reconstruction confirmed the paternal origin of the duplications. Karyotype, FISH analysis and array CGH analysis of other family members were all normal. CONCLUSION: This report underlines the importance of using different methods to correctly evaluate the origin and the structure of CCRs in order to provide an appropriate management of the patients and a good estimation of the reproductive risk of the family.

Exploring the mechanism of PPARγ phosphorylation mediated by CDK5.

Peroxisome proliferator-activated receptor gamma (PPARγ) is a nuclear receptor with a key role in metabolic processes and is target of CDK5 kinase phosphorylation at S245 (S273 in PPARγ isoform 2), thereby inducing insulin resistance. A remarkable effort has been addressed to find PPARγ ligands that inhibit S245 phosphorylation, but the poor understanding in this field challenges the design of such ligands. Here, through computational and biophysical methods, we explored an experimentally validated model of PPARγ-CDK5 complex, and we presented K261, K263 or K265, which are conserved in mammals, as important anchor residues for this interaction. In addition, we observed, from structural data analysis, that PPARγ ligands that inhibit S245 phosphorylation are not in direct contact with these residues; but induce structural modifications in PPARγ:CDK5/p25 interface. In summary, our PPARγ and CDK5/p25 interaction analyses open new possibilities for the rational design of novel inhibitors that impair S245 phosphorylation.

Analysis and Comparison of Vector Space and Metric Space Representations in QSAR Modeling.

The performance of quantitative structure-activity relationship (QSAR) models largely depends on the relevance of the selected molecular representation used as input data matrices. This work presents a thorough comparative analysis of two main categories of molecular representations (vector space and metric space) for fitting robust machine learning models in QSAR problems. For the assessment of these methods, seven different molecular representations that included RDKit descriptors, five different fingerprints types (MACCS, PubChem, FP2-based, Atom Pair, and ECFP4), and a graph matching approach (non-contiguous atom matching structure similarity; NAMS) in both vector space and metric space, were subjected to state-of-art machine learning methods that included different dimensionality reduction methods (feature selection and linear dimensionality reduction). Five distinct QSAR data sets were used for direct assessment and analysis. Results show that, in general, metric-space and vector-space representations are able to produce equivalent models, but there are significant differences between individual approaches. The NAMS-based similarity approach consistently outperformed most fingerprint representations in model quality, closely followed by Atom Pair fingerprints. To further verify these findings, the metric space-based models were fitted to the same data sets with the closest neighbors removed. These latter results further strengthened the above conclusions. The metric space graph-based approach appeared significantly superior to the other representations, albeit at a significant computational cost.

Treatment of Multiple Thoracolumbar and Lumbar Spine Fractures: Comparison of Contiguous and Non-Contiguous Fractures in Non-Osteoporotic Patients

STUDY DESIGN: Retrospective study. OBJECTIVES: To evaluate the outcomes of multiple thoracolumbar and lumbar fractures depending on whether the fractures were contiguous. SUMMARY OF THE LITERATURE REVIEW: The treatment of multiple spine fractures in patients without osteoporosis has rarely been reported. MATERIALS AND METHODS: From February 2004 to January 2016, 81 patients without osteoporosis who had acute thoracolumbar and lumbar fractures and underwent posterior fusion surgery were evaluated. Patients were divided into 2 groups (group A: contiguous, group B: non-contiguous). We investigated the causes of the injuries, the locations of the injuries within the spine, the range of fusion levels, and functional outcomes based on the patients' general characteristics. RESULTS: Group A comprised 37 patients and group B comprised 44 patients. In most patients, the fusion included 3 segments (group A: 12, group B: 14) or 4 segments (group A: 9, group B: 10). Group A scored 21.2 and group B scored 19.0 on the Korean Oswestry Disability Index. In both groups, longer fusion was associated with poorer clinical results. In the clinical evaluation of the fusion rate, there was no statistically significant difference between the 2 groups (p=0.446). CONCLUSIONS: In this study, patients with multiple vertebral fractures showed more fusion segments and poor clinical outcomes in contiguous fractures. In the patients with non-contiguous fractures, the clinical results were better when a minimal number of segments was fused. Therefore, the authors recommend conservative treatment to minimize the number of segments that are fused in non-contiguous multiple thoracolumbar and lumbar fractures when decompression is not necessary.

Debridement, interbody graft using titanium mesh cages, posterior instrumentation and fusion in the surgical treatment of multilevel noncontiguous spinal tuberculosis in elderly patients via a posterior-only.

PURPOSE: To analyse the efficacy and feasibility of surgical management for elderly patients with multilevel non-contiguous spinal tuberculosis(MNSTB)by using one-stage posterior focus debridement, interbody graft using titanium mesh cages, posterior instrumentation and fusion. METHODS: From September 2009 to October 2013, 15 elderly patients with MNSTB were treated with one-stage posterior focus debridement, interbody graft using titanium mesh cages, posterior instrumentation and fusion. There were 10 males and 5 females with a mean age of 63.2 years (range: 60-68 years) at the time of surgery. The mean follow-up time was 40 months(range 26-68 months). Patients were evaluated before and after surgery in terms of erythrocyte sedimentation rate(ESR), neurological status, pain and kyphotic angle. RESULTS: The spinal tuberculosis was completely cured, and the grafted bones were fused in all 15 patients. There were no recurrent tuberculous infections. The ESR reached a normal level within 3 months in all patients. The ASIA neurological classification improved in all cases, and pain relief was reported by all patients. The average preoperative kyphosis was 20.1° (range 8-38°) and decreased to 7.6° (range 1-18°) postoperatively. There was no significant loss of the correction at the latest follow-up. CONCLUSIONS: Our results showed that one-stage posterior focus debridement, interbody graft using titanium mesh cages, posterior instrumentation and fusion was an effective treatment for elderly patients with MNSTB. It is characterized by minimum surgical trauma, good neurological recovery, and good correction of kyphosis.

Concomitant cervical fractures without neurological symptoms: a case report.

BACKGROUND: Non-contiguous spinal fractures are rare and most frequently occur in a fall from a height, or high energy trauma such as a road traffic accident (Reid, J Trauma 27:980-986, 1987). Cervical spine fractures tend to occur at two levels, one-third of injuries occur at the level of C2, and one-half of injuries occur at the level of C6 or at C7 (Wittenberg, Spine 27:254-257, 2002). The most devastating and fatal cervical spine injuries occur in upper cervical levels, either at craniocervical junction C1 or C2. CASE REPORT: The case we present is of a young man involved in a road traffic accident in Ireland who had a concomitant non-displaced C2 vertebral body fracture and a C6-C7 fracture dislocation. The patient had no neurological symptoms. CONCLUSION: Following concurrent ACDF at C6/7 and peg screw fixation of C2 through the same incision the patient made a full recovery.

Multilevel non-contiguous spinal injuries: incidence and patterns based on whole spine MRI.

PURPOSE: Multi-level non-contiguous spinal injuries are not uncommon and their incidence varies from 1.6 to 77% depending on the type of imaging modality used. Delayed diagnosis and missed spinal injuries in non-contiguous spine fractures have been frequently described which can result in significant pain, deformity and neurological deficit. The efficacy of whole spine MRI in detecting asymptomatic significant vertebral fractures is not known. METHODOLOGY: Consecutive spinal injury patients treated between 2011 and 2013 were retrospectively evaluated based on clinical and radiographic records. Patients' demographics, mode of injury, presence of associated injuries, clinical symptoms and the presence of neurological deficit were studied. Radiographs of the fractured region and whole spine MRI were evaluated for the presence of multi-level injuries. RESULTS: Among 484 patients, 95 (19.62%) patients had multilevel injuries including 86 (17.76%) with non-contiguous injuries. Five common patterns of non-contiguous spinal injuries were observed. Pattern I: cervical and thoracic--29.1%, Pattern II: thoracolumbar and lumbosacral--22.1%, Pattern III: thoracic and thoracolumbar--12.8 %, Pattern IV: cervical and thoracolumbar--9.1% and Pattern V: lumbosacral and associated injuries--9.0 %. The incidence of intra-regional non-contiguous injuries was 17.4%. Whole spine MRI scan detected 24 (28.6%) missed secondary injuries of which 5 were unstable. CONCLUSION: The incidence of multilevel non-contiguous spine injury using whole spine MRI imaging is 17.76%. Five different patterns of multi-level non-contiguous injuries were found with the most common pattern being the cervical and thoracic level injuries. The incidence of unstable injuries can be as high as 21% of missed secondary injuries.

Novel Non-contiguous Duplications in the DMD Gene in Five Patients with Duchenne Muscular Dystrophy

BACKGROUND: Muscular dystrophy is an X-linked recessive disorder caused by mutations in the DMD gene. Muscular dystrophy is classified into 2 types; Duchenne muscular dystrophy (DMD), which has severe clinical symptoms, and Becker muscular dystrophy (BMD), which has much milder clinical symptoms. Phenotypic progression to either DMD or BMD can be predicted by analyzing mutations in DMD by using the reading frame rule. METHODS: Of 88 patients with mutations in DMD, which were detected using Multiplex Ligation-dependent Probe Amplification DMD test kit (MRC-Holland, The Netherlands), medical records of 5 patients with non-contiguous duplications were reviewed. These rare non-contiguous duplications in DMD were compared with those reported previously. RESULTS: We identified 3 novel non-contiguous duplications in DMD that included exons 2-7 and 45-51, exons 5-37 and 50-59, and exons 52-53 and 56-61. The 5 patients with these non-contiguous duplications showed the phenotypic features of DMD. Especially, duplication of exons 52-53 and 56-61 was observed in a family, i.e., 2 DMD-affected brothers and their carrier mother. CONCLUSIONS: Prediction of phenotypes associated with complex non-contiguous duplications by using the reading frame rule is difficult because the duplications affect the expression of DMD together. Because most patients with non-contiguous duplications showed the phenotypic features of DMD, the reading frame rule should be interpreted cautiously. This study provides important insights on the non-contiguous duplications in DMD for understanding genotype-phenotype correlations and for developing dystrophin for therapeutic purposes.

Cutaneous manifestations of internal malignancy.

BACKGROUND: Many malignancies affecting the internal organs display cutaneous manifestations which may be either specific (tumor metastases) or nonspecific lesions. AIMS: The study is aimed at determining the frequency and significance of cutaneous manifestations among patients with internal malignancy. MATERIALS AND METHODS: 750 cases of proven internal malignancy, who attended a cancer chemotherapy center in South India, were studied. Specific infiltrates were confirmed by histopathology, fine needle aspiration cytology (FNAC) and marker studies. RESULTS: Out of the 750 patients with internal malignancy, skin changes were seen in a total of 52 (6.93%) patients. CONCLUSION: Cutaneous metastases (specific lesions) were seen in 20 patients (2.66%): contiguous in 6 (0.8%), and non-contiguous in 14 (1.86%). Nonspecific skin changes were seen in 32 patients (4.26%). None of our patients presented with more than one type of skin lesions. Herpes zoster was the most common nonspecific lesion noticed in our patients, followed by generalized pruritus, multiple eruptive seborrheic keratoses, bullous disorder, erythroderma, flushing, purpura, pyoderma gangrenosum, insect bite allergy and lichenoid dermatitis.

Multiple Non-contiguous Spine Fractures with Concomitant Injuries: A Case Report

Multiple non-contiguous spinal fracture is a special type of multi-level spinal injury, which is rare but most frequently occur in motor vehicle accident or a falling from a height. We report five patients of multiple non-contiguous spinal fractures. All patients underwent segmental pedicle screws fixation without fusion for preserving facet joints and minimizing blood loss and operation time. We performed necessary operation for any concomitant injuries at the same day.

Non / 대한정형외과학회잡지

Incidence of non-contiguous multiple spine fracture was increased from 3.2%~4.5% at 1960th and 70th to 5.7% ~23.8% at 80th and 90th. But there is no reports in Korea which has high incidence of traffic and industrial accidents. In 345 consecutive patients with acute spine fracture, we found that 43 patients (12.5%) had multiple non-contiguous spine fractures. At the 43 patients studies 37 (87.4%) sustained fractures at 2 levels while 6 had more than 3 levels of injury, 26 were injured by fall from heights, 27 (62.8%) had 2.33 associated injuries on an average, and 12 (27.9%) had a neurologic deficit. There are five patterns account for 26 (50%) of the total number of patients. In 19 patients (44.2%), there was a mean 29.3 days delay (from 3 to 233 days) in diagnosis of the minor lesions. In 19 delay diagnosed minor lesions, it confirmed by bone scan in 12 patinets(63.6%). Two patients died within 24 hours after accident, and 41 patients (41 major and 50 minor fractures) were treated in our hospital. Among them, 21 (51.2%) needed modification of treatment by the presence of non-con- tiguous multiple spine fractures. According to above findings, the physician must be aware of the possible noncontiguous multiple spine fractures when examine and treat the patients with spine fracture.