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Publicações mais relevantes
Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder caused by biallelic pathogenic variants in the Th gene, leading to a deficiency in the rate-limiting enzyme for the synthesis of dopamine (DA) and other catecholamine neurotransmitters. THD is associated with dystonia and infantile parkinsonism with a broad and complex spectrum and variable response to l-Dopa therapy. TH1-p.R202H is a frequent THD variant that affects TH stability and activity. The Th knock-in (Th-ki) mice with the equivalent mutation (Th-p.R203H) present reduced TH and DA levels, biological and molecular alterations, different phosphorylation patterns and altered distribution of dopaminergic markers relative to wild-type mice. Th-ki mice displayed significantly reduced TH, especially in the striatum, but also in the cortex, olfactory bulb, cerebellum, substantia nigra, globus pallidus, and spinal cord, a decrease that is not associated with dopaminergic neuronal degeneration. No changes were observed in Th-mRNA expression, and the decreased level of TH in the concrete brain areas in Th-ki mice appears to be due to defective TH protein axonal transport. Moreover, we characterized the development of dopaminergic neurons in the substantia nigra and neuronal plasticity in various brain regions. Our results indicated that alterations in TH expression within specific striatal GABAergic interneurons due to TH deficiency may potentially disrupt the balance of inhibitory neurotransmission in the striatum. Overall, our findings demonstrate that TH deficiency disrupts striatal inhibitory circuitry and triggers compensatory neuronal plasticity, without causing neuronal degeneration.
Prevalence and characteristics of scoliosis among ethiopian schoolchildren aged 6-15 Years: A school-based cross-sectional study.
Scoliosis is a progressive spinal deformity that often develops during childhood and adolescence. In Ethiopia, population-level prevalence data are scarce, and school-based screening, though practical, may overestimate cases without radiographic confirmation. Understanding its distribution and severity is critical for guiding clinical and public health strategies. To estimate the prevalence of scoliosis among Ethiopian schoolchildren, characterize its types and severity, and examine associations with clinical and anthropometric variables. A cross-sectional school-based screening was conducted from March 2024 to June 2025 across 42 public primary schools in six regions. Children aged 6-15 years were screened using the Adam's Forward Bend Test and scoliometer; suspected cases (ATR ≥ 7°) were referred for radiographic confirmation. Prevalence estimates and associations were analyzed using chi-square tests and t-tests. Data were analyzed in Python, with quality control ensured through standardized training, pilot testing, and double-entry verification. Of 32,000 children screened, 48 were suspected of scoliosis (0.15%; 95% CI: 0.11-0.20%), and 21 were radiographically confirmed (0.066%; 95% CI: 0.04-0.10%). Congenital scoliosis was most common (61.9%), with male predominance (69%), while idiopathic scoliosis (23.8%) was more frequent in females (60%). Neuromuscular and syndromic scoliosis were rare. Severity analysis showed male predominance in mild and very severe cases, with equal sex distribution in severe scoliosis. The mean Cobb angle was 47.4° (SD ± 28.9), most cases involved the thoracic spine (52.4%), and the rib hump was typically right-sided (61.9%). Cobb angle correlated positively with ATR (r = 0.61) and thoracic loss (r = 0.48), and negatively with age (r = -0.24) and thoracic height (r = -0.46). This study shows that scoliosis prevalence within the school population is low, with adolescent idiopathic cases markedly underrepresented compared to other school-based screening reports. These findings suggest that nationwide school screening programs are not recommended. Instead, efforts should prioritize strengthening diagnostic and referral pathways for clinically evident cases to ensure timely access to specialized care.
Local Translation in Glial Cells of the Brain.
Local protein synthesis is a conserved mechanism that allows cells with intricate architectures to perform compartment-specific functions. By translating messenger RNAs (mRNAs) at distinct subcellular locations, cells can respond swiftly and precisely to localized stimuli. This strategy is crucial in neurons, whose long processes extend far from the cell body. Disruptions in neuronal local translation have been implicated in neurological disorders, including fragile X syndrome, amyotrophic lateral sclerosis, and spinal muscular atrophy. While much of the spotlight has been on neurons, glial cells-microglia, astrocytes, oligodendrocytes, and radial glia-are increasingly recognized for their own dynamic use of local translation. These support cells exhibit asymmetric mRNA localization, suggesting that local protein synthesis plays key roles in their diverse functions. This review explores the emerging landscape of local translation in glial cells and examines how this finely tuned process contributes to both normal brain function and the development of neurological disease.
Association between frailty status and pain, balance, and quality of life in patients with lumbar spinal stenosis.
Frailty is a clinical syndrome that affects individuals physically and psychosocially. However, the association between lumbar spinal stenosis (LSS) and frailty remains unclear. This study aimed to compare pain, balance, disability, fear of falling, and quality of life between patients with LSS with and without frailty. This cross-sectional study included 43 frail and 48 nonfrail patients with LSS according to the frailty criteria of Fried et al. Pain intensity (numeric rating scale [NRS]), static balance (single leg stance test [SLST]), dynamic balance (Timed Up and Go test [TUG]), disability (Oswestry Disability Index [ODI]), fear of falling (Falls Efficacy Scale-International [FES-I]), and quality of life (Short form-36 [SF-36]) were assessed. Frailty was observed in 47.3% of patients, and baseline characteristics were similar between the groups (p > 0.05). NRS scores for low back and leg pain, ODI and FES-I scores, and TUG test durations were significantly higher in frail patients with LSS than in nonfrail patients (p < 0.05). SLST durations and SF-36 subscale scores were significantly lower in frail patients with LSS (p < 0.05). TUG duration (p = 0.001, OR = 1.482), physical activity level (p = 0.007, OR = 0.999), and the SF-36 vitality subscale (p = 0.031, OR = 0.968) were significantly associated with frailty in the logistic regression model (p < 0.001). Frail patients with LSS experience greater pain intensity, balance disorders, disability, fear of falling, and poorer quality of life. Moreover, reduced mobility, lower physical activity levels, and decreased vitality are associated with a higher likelihood of frailty in patients with LSS. Therefore, early assessment of frailty in patients with LSS and the implementation of personalized rehabilitation approaches may help mitigate its negative impact.
Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice.
Peroxisomes are dynamic organelles that play a crucial role in cellular metabolism, particularly in fatty acid degradation, cholesterol homeostasis and reactive oxygen species metabolism. Their dysfunction is associated with severe neurological disorders, including Zellweger spectrum disorders (ZSD) and X-linked adrenoleukodystrophy (X-ALD). In this study, we investigated the relationship between cholesterol homeostasis and myelination in postnatal peroxisome-deficient Pex2 knockout mice. We dissected the central nervous system (CNS) of 10-day-old (P10) control and Pex2 -/- mice into five regions: spinal cord, brainstem, cerebellum, diencephalon and cerebral cortex. Catalase activity, a marker enzyme of peroxisomes, was significantly increased in CNS regions of Pex2 -/- mice, indicating an oxidative imbalance. Proteomic analysis revealed significant alterations in peroxisomal proteins and pathways related to neurodegenerative diseases, cholesterol and fatty acid metabolism and mRNA processing. Cholesterol biosynthesis was particularly dysregulated: enzyme activities, mRNA, and protein levels were reduced in white matter regions but increased in the cerebral cortex. The elevated desmosterol levels in the brain of Pex2 -/- mice indicate impaired cholesterol synthesis. Sphingolipid metabolism was also altered in the peroxisome-deficient CNS, as the protein levels of enzymes dihydroceramide desaturase 1, ceramide synthase 2, fatty acid 2-hydroxylase, and UDP-glycosyltransferase 8 were significantly decreased. Myelination was significantly reduced throughout the CNS, as evidenced by decreased activities of the myelin marker 2',3'-cyclic nucleotide 3'-phosphodiesterase (CNP) and decreased mRNA and protein levels of myelin-associated proteins. The consistent decrease in ribosomal protein S6 phosphorylation in the CNS of Pex2 -/- mice suggests that decreased mechanistic target of rapamycin complex 1 (mTORC1) activity contributes to hypomyelination. Gene expression analysis revealed an upregulation of pro-inflammatory cytokines and altered expression of some homeostatic and disease-associated microglial (DAM) genes. However, full DAM activation was not yet observed in Pex2 -/- mice at P10. In conclusion, this study shows that systemic peroxisome deficiency leads to severe hypomyelination and dysregulation of cholesterol and fatty acid metabolism in the CNS, providing new insights into the pathophysiology of peroxisomal disorders.
Publicações recentes
Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine.
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults.
The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers.
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
📚 EuropePMCmostrando 200
Intractable dialysis-associated headache: a management dilemma in pediatric hemodialysis.
Pediatric nephrology (Berlin, Germany)[Ultrasound-Guided Injection of the Thoracolumbar Fascia in the Treatment of Low Back Pain: Methodological Approach and Anatomical Study].
Acta chirurgiae orthopaedicae et traumatologiae CechoslovacaTyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
Journal of inherited metabolic diseaseNeuromelioidosis Causing Rapidly Progressing Neurological Syndromes Mimicking Stroke and Demyelination: Insights from a Case Series.
Travel medicine and infectious diseaseImprovement in spinopelvic parameters after laminectomy and complete factectomies above prior fusion facilitated by posterior arthroplasty: illustrative case.
Journal of neurosurgery. Case lessonsTargeted repair of a refractory ventral cerebrospinal fluid leak identified by dynamic computed tomography myelography: illustrative case.
Journal of neurosurgery. Case lessonsUpadacitinib for the Treatment of Systemic Immune Co-Morbidity in One Case: Alopecia Areata, Vitiligo, Ankylosing Spondylitis, and Allergic Rhinitis-Asthma - Multifaceted Control.
Clinical, cosmetic and investigational dermatologyDevelopment of Carbon Dioxide Embolism During Partial Amniotic Carbon Dioxide Insufflation for Fetoscopic Laser Photocoagulation: A Case Report.
CureusUltrasound-Guided Atelocollagen Injection for Chronic Pain After Spinal Surgery: A Retrospective Cohort Study.
Journal of pain researchCase Report: A rare but critical complication in patients with lumbar infection combined with cauda equina syndrome-sacrococcygeal pressure sores.
Frontiers in medicineCraniospinal cerebrospinal fluid volume changes after extreme bilateral frontotemporoparietal craniectomy and cranioplasty: a volumetric magnetic resonance imaging case report.
Croatian medical journalA simple bedside technique for managing a non-deflating Foley catheter balloon in a resource-limited setting - a case report.
International journal of emergency medicinePrevalence and characteristics of scoliosis among ethiopian schoolchildren aged 6-15 Years: A school-based cross-sectional study.
PloS oneSchwannosis with mature collagen in the spinal cord of a calf.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncIncreased VH4+JH6+ antibody heavy chain use in plasmablasts from asymptomatic multiple sclerosis patients.
Genes and immunityTransvenous biopsy of body cistyc lesions in a 32-year-old man with cloves syndrome and thrombocytopenia: a safe option for high bleeding risk patients.
CVIR endovascularIntrathecal synthesis of Epstein-Barr virus antibodies 15 years before onset of multiple sclerosis.
Multiple sclerosis (Houndmills, Basingstoke, England)Physiotherapist's Management of Suspected Cauda Equina Syndrome in the United Kingdom: A National Survey.
Physiotherapy research international : the journal for researchers and clinicians in physical therapyLocal Translation in Glial Cells of the Brain.
Annual review of cell and developmental biologyA clinico-molecular classification scheme for ossification of ligamentum flavum: Based on 1034 cases.
Journal of orthopaedic translationDoes magnetic resonance imaging morphology correlate with preoperative neurological status in operatively treated lumbar canal stenosis? A retrospective study.
Asian spine journalPrevalence and factors associated with muscle atrophy and frailty in Vietnamese elderly with knee osteoarthritis and chronic spinal pain.
Chinese journal of traumatology = Zhonghua chuang shang za zhiClinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.
Molecular genetics and metabolismCourse and predictors of somatic symptom disorder in irritable bowel syndrome and ulcerative colitis: A longitudinal analysis from the SOMA.GUT-RCT.
General hospital psychiatryNon-tobacco nicotine dependence and incidence of pseudarthrosis and other postoperative complications in lumbar fusion surgery: a retrospective analysis.
European journal of orthopaedic surgery & traumatology : orthopedie traumatologieSymptomatic Spontaneous Intracranial Hypotension Caused by a Cerebrospinal Fluid Leak at the C1-C2 Level of the Spine Sealed With an Epidural Blood Patch-Case Series and Review of Literature.
Pain practice : the official journal of World Institute of PainUltrasound imaging of the spinal accessory nerve in the neck.
Ultrasound (Leeds, England)Application value of serum high mobility group protein B1 (HMGB1) and soluble triggering receptor-1 (sTREM-1) levels in the prognostic assessment of trauma.
Journal of medical biochemistryElsberg Syndrome in Varicella Zoster Virus Infection.
The Journal of the Association of Physicians of IndiaAnalysis of 5317 Consecutive Pediatric Spinal Deformity Intraoperative Neuromonitoring (IONM) Alerts: Importance of Normotension at Correction and IONM Recovery.
SpineAssociation between frailty status and pain, balance, and quality of life in patients with lumbar spinal stenosis.
Turkish journal of medical sciencesDysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice.
Frontiers in molecular neuroscienceAcute Cauda Equina Syndrome Due to Primary Lumbar Spinal Hydatid Cyst: A Rare Case.
Journal of orthopaedic case reportsSilent Lung Injury: Acute Respiratory Distress Syndrome without Chest Trauma Following a High-Level Fall.
International medical case reports journalVentral Spinal Cord Displacement as a Cause of Thoracic Myelopathy: A Case Series of Nine Patients with Special Consideration of Magnetic Resonance Imaging Findings.
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinDural tears from traumatic spinal fractures: an illustrative case and systematic review of its incidence, diagnosis, risk factors, and management.
Journal of spine surgery (Hong Kong)Adult spinal process impingement syndrome: progression and staging.
Scientific reportsUltrasound-guided selective nerve root blocks and caudal epidural injection in the management of lumbar radicular syndrome: a case series with one-year follow-up.
Journal of ultrasoundNeuromodulation for Restless Legs Syndrome: A Systematic Review and Mechanistic Considerations for Spinal Cord Stimulation.
Sleep & breathing = Schlaf & AtmungAbsence of lumbosacral plexus abnormalities in preschool children with tethered cord syndrome: A multiparametric MRI study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFoix-Alajouanine syndrome caused by MRI occult thoracic ventral perimedullary arteriovenous fistula: illustrative case.
Journal of neurosurgery. Case lessonsLong-term relief of refractory trigeminal neuropathy using high-frequency spinal cord stimulation at the cervicomedullary junction: a 6-year follow-up case report.
Frontiers in neuroscienceTraumatic Cervical Myelopathy Masked by Alcohol Intoxication and Diagnostic Anchoring.
CureusPharmacologic Management of Neuropathic Pain After Lumbar Spine Surgery: A Case-Based Review.
Orthopedic reviewsEffect of standardized reporting template on turnaround times of on-call radiology residents' preliminary interpretation of spinal cord or cauda equina compression.
Emergency radiologyRisk Factors for Spinal Cord Stimulator Explant After Implantation for Neuropathic Pain: A Systematic Review.
Neuromodulation : journal of the International Neuromodulation SocietyTo Do Or Not To Do: Therapeutic Hypothermia Treatment For An Infant With HIE And Prenatal Spinal Muscular Atrophy With Congenital Bone Fractures.
Journal of mother and childCauda equina syndrome caused by intradural migration of a bullet: A rare case presentation.
Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma & emergency surgery : TJTESThe Association of Operative versus Nonoperative Treatment for Lumbar Spondylolisthesis and Stenosis with Future Metabolic Conditions and Allostatic Burden: An Emulated Target Trial.
The spine journal : official journal of the North American Spine SocietyRadiographic Sagittal Alignment and Neurological Changes Following Conservative Cervical Structural Rehabilitation After Motor Vehicle Collision in a Patient With Pre-existing Scoliosis: A Case Report.
CureusDelayed cauda equina compression caused by BioGlue®-induced granulomatous reaction following spinal dural repair: A case report.
Surgical neurology internationalCervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.
Surgical neurology internationalClinical Insights and Statistical Analysis of Failed Back Surgery Syndrome: A Multicentric Retrospective Review.
Asian journal of neurosurgeryEXPRESS: miRNA-let7b5p Alleviates Visceral Hypersensitivity by Inhibiting the Activation of Spinal Microglial in Male IBS-like Rats.
Molecular painVestibular assessment in definite cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS): A case of siblings study.
Auris, nasus, larynxZorevunersen in Children and Adolescents with Dravet Syndrome.
The New England journal of medicineSimultaneous Closed-Loop Inceptiv Spinal Cord Stimulator and Bladder InterStim Implantation - A Case Report.
Pain medicine case reportsBilateral Upper Extremity Neuropathy and Paraplegia: A Case Report.
Pain medicine case reportsRadiofrequency Ablation for the Treatment of Pain Related to Bertolotti's Syndrome: A Case Report.
Pain medicine case reportsExternally Powered Peripheral Nerve Stimulator With a Separate Receiver at the Median Nerve for the Treatment of Postoperative Carpal Tunnel Release-Related Chronic Pain in the Upper Extremity: A Case Report.
Pain medicine case reportsDiagnostic Challenge of a Tumor-mimicking Spinal Pseudogout Lesion: Case Report and Literature Review.
Cancer diagnosis & prognosisRare Case of Multifocal Spinal Hemangioblastomas With Holocord Syringo-Hydromyelia in an Adolescent Male.
Cureus[Spinal lncRNA_RT1-CE10 attenuates chronic visceral hypersensitivity in rats with irritable bowel syndrome via inhibiting microglial activation].
Sheng li xue bao : [Acta physiologica Sinica]Oxytocin relieves visceral hypersensitivity through GABAB1-TRPV1 in rats with irritable bowel syndrome.
Sheng li xue bao : [Acta physiologica Sinica]Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.
Proceedings of the National Academy of Sciences of the United States of AmericaScoliosis in Escobar Syndrome: Retrospective Review of Surgical Outcomes, Risks, and Radiographic Patterns.
Journal of pediatric orthopedicsBlood biomarkers of inflammation and brain-derived neurotrophic factor can not be used to assess the effectiveness of collagen mesotherapy in chronic cervical myofascial pain syndrome. A pilot single-blind randomized study.
Rheumatology internationalIncreased fibroblast growth factor 21 is associated with metabolic syndrome in chronic spinal cord injury: A cross-sectional study.
The journal of spinal cord medicineA case of Brown-Séquard syndrome due to spınal cord infarctıon following percutaneous coronary intervention.
The journal of spinal cord medicinePostural Orthostatic Tachycardia Syndrome Presenting With Recurrent Syncope After Cervical Spinal Cord Injury.
Clinical case reportsPre-Plexal Extension of Parsonage-Turner Syndrome With Nerve Root Involvement on Needle Electromyography.
Journal of clinical neuromuscular diseaseSpinal cord syndrome: uncovering the risks of nitrous oxide abuse.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyThe Suspected Cauda Equina Syndrome Score (SuCESS) : development and validation of a clinical triage tool.
The bone & joint journalUnderstanding Cutaneous Sensory Syndromes: Diagnostic challenges and therapeutic implications.
Clinical and experimental dermatologyPressing Intervention Alleviates Pain in Rats With Myofascial Trigger Points via the TRPV1 Channel in Unmyelinated C-Type Sensory Nerve Fibers.
Journal of integrative neurosciencePlaque-type dura mater graft-associated Creutzfeldt-Jakob disease: an autopsied case report.
PrionAquaporin-4 (AQP4) antibody-positive neuromyelitis optica spectrum disorder (NMOSD) complicated with acute pancreatitis: A case report.
MedicineIncreased cerebrospinal fluid YKL-40 concentration in hip fracture patients with delirium.
Brain communicationsA Prospective Clinical and Radiological Study of Symptomatic Upper Lumbar Disc Herniation in the Indian Population.
CureusNeuropathic Pain in Neuromyelitis Optica Spectrum Disorders: Prevalence and Management Strategies-A Systematic Review and Meta-Analysis.
Journal of clinical medicineDeciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.
International journal of molecular sciencesA Splice Acceptor Variant in DLL3 Is Associated with Spondylocostal Dysostosis in a Litter of Mixed-Breed Dogs.
GenesCLIPPERS mimicking multifocal brain metastases: a diagnostic challenge.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyTranscutaneous Spinal Cord Stimulation Improves Upper and Lower Limbs' Motor and Sensory Function in a Subject with Central Cord Syndrome: A Case Report.
Neurology internationalClopidogrel-induced drug-induced hypersensitivity syndrome following percutaneous coronary intervention: a case report of therapeutic dilemma and management strategy.
Frontiers in pharmacologyDosimetric optimization and clinical feasibility of the block technique in helical tomotherapy for bilateral breast cancer.
Medical dosimetry : official journal of the American Association of Medical DosimetristsMulti-omics-based study on the biological characteristics of kidney renal deficiency and blood stasis in ankylosing spondylitis.
Journal of traditional Chinese medicine = Chung i tsa chih ying wen panAssociation Between Occupational Physical Work Exposure and Wild-Type Transthyretin Cardiomyopathy.
JACC. AdvancesAnesthetic considerations in surgery for early onset scoliosis: Challenges and advancements.
Journal of clinical orthopaedics and trauma[Risk factor analysis of excessive resection of facet joint after large-channel spinal endoscopic depression for degenerative lumbar diseases].
Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery[Comparison of effectiveness between endoscopic and microscopic anterior cervical discectomy and fusion].
Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgeryTwo-level fusion for Bertolotti syndrome and concomitant adjacent segment disease: patient series.
Journal of neurosurgery. Case lessonsSevere Post-spinal Bezold-Jarisch Reflex During Emergency Caesarean Delivery Unmasking Wolff-Parkinson-White Pattern.
CureusTethered Cord Syndrome in Pediatric and Adult Populations: A Retrospective Analysis of Outcomes and Associated Spinal Dysraphisms.
CureusA Modern Approach to Brown-Séquard Syndrome: A Case Report.
CureusCase Report: Infant with vaccine-associated paralytic poliomyelitis unveils global disparities in care for inborn errors of immunity.
Frontiers in immunologyA pediatric case of idiopathic harlequin syndrome.
Dermatology online journalArthroscopic-assisted uni-portal spinal surgery technology in the treatment of far-out syndrome: A case report and literature review.
The Journal of international medical researchClinical effectiveness of spinal cord stimulation in managing refractory upper-extremity pain.
Neurosurgical reviewTraumatic Spinal Cord Infarction Associated With Elevated Intracranial and Intraspinal Pressure in a Pediatric Patient: A Case Report and Review of the Literature.
CureusSurgical Treatment of Idiopathic spinal cord herniation: A Case Report under Neuromonitoring and Meta-analysis of 211 reviewed Cases.
Brain & spineHorner Syndrome Following an Upper Thoracic Vertebral Column Resection for Congenital Scoliosis: A Case Report.
JBJS case connectorPediatric Horner's syndrome following posterior spinal fusion: a case series.
Spine deformitySurgical options of left subclavian artery revascularization in the endovascular repair of the aortic arch.
The Journal of cardiovascular surgeryImpact of Postoperative Chronic Back Pain Syndrome on the Incidence of Psychiatric and Brain Disorders, and All-Cause Mortality.
Journal of pain researchOccipital shuntalgia: Rethinking post-shunt occipital headache etiology and care.
Acta neurochirurgicaSystemic Manifestations and Mortality Risk in Transthyretin V142I Variant Carriers: A Million Veteran Program Analysis.
JACC. CardioOncologyCase Report: Multi-sensory integration treatment for preschool children with intermittent exotropia and idiopathic scoliosis comorbidity.
Frontiers in medicineLong-term efficacy of neuromodulation in chronic pain management: a single-center retrospective study.
Frontiers in pain research (Lausanne, Switzerland)Mendelian randomization analysis of labor anesthesia and adverse neonatal outcomes.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansA Case of Posterior Reversible Encephalopathy Syndrome Complicating a Thoracic Spinal Subdural Hematoma.
CureusLuton cauda equina syndrome pathway: a pragmatic approach to achieve a national target of time to scan in UK district general hospitals.
Bone & joint openPrevalence of Low Back Pain and its Association with Spinal Alignment Measured by Spinal Mouse in School-Age Children: KID Locomo Study.
Spine surgery and related researchDevelopment and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report.
CureusNeuraxial Anesthesia in a Parturient With Newly Diagnosed Klippel-Trenaunay Syndrome: A Case Report.
CureusCase Report: Absent F-Waves in a Case of Spinal Ischemia - A Potential Source of Diagnostic Error.
Case reports in neurologyAssociation Between Lumbosacral Transitional Vertebrae and Spondylolisthesis: A Systematic Review and Meta-Analysis.
Clinical anatomy (New York, N.Y.)A case of myelin oligodendrocyte glycoprotein antibody-associated disease presenting with radiculopathies.
Rinsho shinkeigaku = Clinical neurologyCentrally Mediated Disorders of Gastrointestinal Pain.
GastroenterologyPurpose-Adaptable Reinforced 3D Hyaluronic-Acid Based Platform to Study Pathomechanisms of the Central Nervous System.
Advanced healthcare materialsMLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.
Journal of translational medicineGenetic Syndromes Associated With Congenital Upper Limb Differences.
The Journal of hand surgeryImpact of chronic thrombocytopenia on clinical outcomes after single-level anterior cervical discectomy and fusion: an analysis of the nationwide inpatient sample of the US.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyPerformance of the 2024 McDonald Criteria in Patients Under Evaluation for Suspected Multiple Sclerosis.
NeurologyMotor Recovery After a Hemispherectomy: Review of Mechanisms and the Potential of Neuromodulation to Enhance Motor Outcomes.
Journal of child neurologyMelatonin Mitigates Central Sensitization and Nociplastic Pain in Spinal Cord and Dorsal Root Ganglia of FM Rat Model: Modulation of SIRT1/PGC-1α/MAPK/NF-κB Signaling.
Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune PharmacologyA Translational Roadmap for Neurological Nonsense Mutation Disorders.
International journal of molecular sciencesExpanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.
American journal of medical genetics. Part AFatal Spinal Cord Edema Following Cervical Decompression Surgery Possibly Associated with Dialysis Disequilibrium Syndrome: A Case Report.
JMA journalNeuromyelitis optica spectrum disorder in an 11-year-old: a case report in a pediatric patient from Nepal.
Annals of medicine and surgery (2012)A comparison of reverse shoulder arthroplasty and glenohumeral arthrodesis for end-stage shoulder instability.
JSES internationalImpact of Surgical Timing on Neurological Outcomes in Acute Lumbar Disc Herniation: Ultra-Early Versus Delayed Microdiscectomy.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesHigh frequency and unique subtypes of meningioma in patients with BAP1 tumor predisposition syndrome.
Journal of neuro-oncologyCombined ultrasound-guided C2 DRG pulsed radiofrequency and suboccipital myofascial plane block for cervicogenic headache: a retrospective study.
Frontiers in pain research (Lausanne, Switzerland)Addressing Bilateral Post-traumatic Distal Radius Growth Arrest with Positive Ulnar Variance with Acute Ulnar Shortening Osteotomy and Distal Radioulnar Joint Fixation in a 13-Year-Old Child: A Case Report.
Journal of orthopaedic case reports[Principles of systematization and formation of surgical strategies for craniovertebral region lesions].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoNocturnal emissions or wet dreams: modern evidence from a systematic scoping review.
Sexual medicine reviewsComparison of dexmedetomidine and morphine versus plain ropivacaine 0.2% for myofascial infiltration in thoracolumbar spinal fusion: a double-blind randomized trial.
Asian spine journalComplications Associated With Removal of Paddle and Cylindrical Spinal Cord Stimulator Electrodes.
Clinical spine surgeryTourette syndrome with cervical instability and expeditious instrumentation failure: A case report and review of the literature.
Surgical neurology internationalEarly onset scoliosis in syndromic and neuromuscular disorders: A multidisciplinary approach.
Journal of clinical orthopaedics and traumaSpinal Cord Stimulation in Complex Regional Pain Syndrome: A Narrative Review.
CureusTumor-induced osteomalacia caused by phosphaturic mesenchymal tumor in the thoracic spine: an uncommon site.
Journal of diabetes and metabolic disordersKetamine for acute and chronic pain: beyond anaesthesia.
Pain managementThe Rising Use of Navigation in Pediatric Spine Procedures: Trends and Factors.
Journal of pediatric orthopedicsContemporary Outcomes of Thoracic Endovascular Aortic Repair in Patients with Syndromic Genetic Aortopathy: A Multi-Centre National Study.
Annals of vascular surgeryFlocoumafen exposure induces skeletal developmental toxicity and neurotoxicity in zebrafish (Danio rerio).
Toxicology lettersComparative Outcomes of Single-Level Lumbar Laminectomy versus Hemilaminectomy: A Retrospective TriNetX Analysis.
Global spine journalThe role of genetics and molecular mechanisms in early onset scoliosis.
Journal of clinical orthopaedics and traumaDifferential diagnosis of degenerative cervical myelopathy considered in patients spine surgeons referred to neurologists: a retrospective cohort study.
BMC musculoskeletal disorders[A case of cryptogenic stroke with platypnea-orthodeoxia syndrome and paroxysmal atrial fibrillation].
Rinsho shinkeigaku = Clinical neurologyFeasibility of modified halo-pelvic distraction technique in the management of severe spinal deformities in low- and middle-income countries: a pilot study in East Africa.
European journal of orthopaedic surgery & traumatology : orthopedie traumatologieHypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report.
The Turkish journal of pediatricsWhite cord syndrome: A rare complication of adequate spinal cord decompression. A case report and review of current literature.
Brain & spineConcurrent Presentation of Idiopathic Intracranial Hypertension and Bilateral Optic Perineuritis in a Young Boy: A Rare Clinical Entity.
CureusMetastatic extra-axial medulloblastoma involving the trigeminal nerve: a rare prognostic entity with a comprehensive literature review.
Frontiers in oncologyNeuromuscular Scoliosis as a Rare Manifestation of Guillain-Barré Syndrome in a Child.
CureusCaudal Duplication Syndrome: A Case Report Emphasizing Functional Assessment in Surgical Management.
CureusSexuality and sexual health in primary tic disorders.
Handbook of clinical neurology[Chinese expert consensus on the diagnosis and treatment of Becker muscular dystrophy].
Zhonghua nei ke za zhiClinical Features and Outcomes of Posterior Spinal Artery Infarctions - A Review.
Neurology IndiaNeurologic Complications of Cancer and Its Treatment.
Continuum (Minneapolis, Minn.)Perioperative Management of a Pediatric Patient With Koolen-de Vries Syndrome Presenting for Posterior Spinal Fusion.
Journal of medical casesSacral Tarlov cysts and spontaneous persistent genital arousal: 2 unrecognized and underappreciated health conditions with an uncertain relationship.
AJOG global reportsMRI as a key tool in presumptive antemortem diagnosis of rabies: A case report.
Radiology case reportsA different perspective on cervical X-ray parameters in nTOS: could it play a role in pathophysiology?
Journal of orthopaedic surgery and researchSelecting Neuromodulation Devices For Chronic Pain Conditions: A Narrative Review.
Pain physicianInhibition of bladder sensory afferents via intrabladder injection of adenoassociated viruses-retro-mediated Gi-DREADDs alleviates bladder overactivity and pain in mice.
PainMechanisms and clinical progress of spinal cord stimulation in refractory chronic pain: an overview.
Frontiers in neurologyAnalgesic effects of bulleyaconitine A: new advances in research from ion channel targets to clinical translation.
Frontiers in pharmacologyClinical characterization and management of persistent genital arousal disorder/genito-pelvic dysesthesia (PGAD/GPD): a registry study.
Sexual medicineRuptured spinal dural arteriovenous fistula with subdural hematoma: A case report.
Surgical neurology internationalThe Effects of Lumbar Spinal Fusion on Spinopelvic Biomechanics Years After Primary Total Hip Arthroplasty: A Case Report.
CureusPersistent fever: Anti-KS syndrome overlaps with multidrug-resistant infections (MDRO) in a cervical spinal cord injury (CSCI) patient.
Respiratory medicine case reports[Development of a novel clinical prediction model for musculoskeletal chest pain in the emergency department].
Orvosi hetilapIatrogenic botulism: a risk for botulinum toxin's medical use?
Journal of neural transmission (Vienna, Austria : 1996)Constructing Neurology: Jean-Martin Charcot (1825-1893): A Bicentenary Tribute.
Movement disorders clinical practiceSuccessful treatment of pre-extensively drug-resistant tuberculous meningoencephalomyelitis in pregnancy with a bedaquiline and delamanid-based regimen: a case report.
BMC infectious diseasesZinc chelation therapy mitigates muscle fibrosis and improves functional outcomes in a murine model of crush syndrome.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic AssociationSleep in children with spinal muscular atrophy and their caregivers: Exploring sleep problems and the need for care.
Research in developmental disabilitiesModulation of spinal and cortical neuronal excitability by transcutaneous spinal direct current stimulation in restless legs syndrome.
Sleep medicineInhibition of focal adhesion kinase impairs tumor formation and preserves hearing in a murine model of NF2-related schwannomatosis.
Science advancesSpinal cord perfusion pressure protocol for acute spinal cord injury: Pragmatic implementation and early results at two sites.
PloS oneThe Effects of Tonic and Burst Spinal Cord Stimulation on Cortical Pain Processing and Their Interaction With Conditioned Pain Modulation.
Neuromodulation : journal of the International Neuromodulation SocietyFrozen elephant trunk for acute type A aortic dissection: long-term outcomes over two decades.
European heart journalPathophysiology of Chronic Pain.
The Clinical journal of painDiagnostic biomarkers for differentiating AQP4-IgG- negative NMOSD from other nervous system autoimmune disorders: a retrospective study.
Frontiers in immunologyEthanol-precipitated Saccharides: Essential for Danggui Sini decoction against oxaliplatin-induced neurotoxicity.
Journal of ethnopharmacology[XVII Post-ECTRIMS Meeting: Review of the New Developments Presented at the 2024 ECTRIMS Congress (I)].
Revista de neurologiaGender-Based Analysis of Perioperative and Early Postoperative Complications in Tubular Microdiscectomy for Lumbar Disc Prolapse: A Retrospective Comparative Study.
Health science reportsPrimary and metastatic brain tumours in hereditary cancer syndromes: case reports with and literature review.
Hereditary cancer in clinical practiceNeurophysiological insights into iNPH: ABR and CAEP responses to lumbar puncture and shunt surgery.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaPeripheral Immune Remodeling After Spinal Cord Injury: Marked by Expansion of CD38+, CTLA-4+, and PD-1+ T and NK Cells.
Neurology(R) neuroimmunology & neuroinflammationComplications and Management of Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders: A Literature Review.
Orthopedic nursingThe characteristics and surgical outcomes of atlantoaxial instability in pediatric patients with Down syndrome: a case-match study.
Journal of pediatric orthopedics. Part BThe Relationship Between Emotion Processing and Flexor Afferent Responses in Upper Limbs.
Sensors (Basel, Switzerland)Gastrointestinal Diagnostic Coding After Spinal Cord Injury: Health Behavior Correlates and Implications for Neurogenic Bowel Management in a Nationwide Claim-Based Cohort.
Journal of clinical medicinePain Hypersensitivity in a Mouse Model of Marfan Syndrome.
Antioxidants (Basel, Switzerland)Advances in the Pathophysiology and Management of Cancer Pain: A Scoping Review.
CancersImaging persistent spinal pain syndrome and spine surgery complications: an interpretation guide for radiologists.
Insights into imagingAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Atrofia espinhal-oftalmoplegia-síndrome piramidal.
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
- Prevalence and characteristics of scoliosis among ethiopian schoolchildren aged 6-15 Years: A school-based cross-sectional study.
- Local Translation in Glial Cells of the Brain.
- Association between frailty status and pain, balance, and quality of life in patients with lumbar spinal stenosis.
- Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice.
- Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine.
- Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
- The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults.
- The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers.
- Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1217(Orphanet)
- MONDO:0015250(MONDO)
- GARD:4942(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55785356(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
