Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 54
Filtrar
1.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 53(1): 121-126, 2022 Jan.
Artigo em Zh | MEDLINE | ID: mdl-35048611

RESUMO

OBJECTIVE: To establish, with finite element technology, a three-dimensional nonlinear finite element model of the normal occipital bone, atlas and axis and a three-dimensional nonlinear finite element model of concomitant atlanto-occipital fusion and atlantoaxial dislocation, providing a biomechanical method for clinical research on the upper cervical spine. METHODS: Finite element analysis was conducted with the CT data of a 27-year-old male volunteer, and a three-dimensional nonlinear finite element model, i.e., the normal model, of the normal occipital bone, atlas and axis was established accordingly. Finite element analysis was conducted with the CT data of a 35-year-old male patient with concomitant atlanto-occipital fusion and atlantoaxial dislocation. Then, the ideal state of a simple ligament rupture under high load was generated by computer simulation, and a three-dimensional nonlinear finite element model of concomitant atlanto-occipital fusion and atlantoaxial dislocation was established, i.e., the atlanto-occipital fusion with atlantoaxial dislocation model. For both models, a vertical upward torque of 1.5 N·m was applied on the upper surface of the occipital bone. Through comparative analysis of the two models under stress, the data of the range of motion (ROM) for flexion, extension, lateral bending, and rotation were examined. In addition, stress and deformation analysis with 1.5 N·m torque load was conducted to validate the effectiveness of the two three-dimensional nonlinear finite element models established in the study. RESULTS: When the normal model established in the study was under 1.5 N·m torque load, it exhibited a maximum ROM for each unit of flexion, extension, and the ROM approximated the experimental measurement results of human mechanics, confirming the validity of the simulation. The stress and deformation results of the model were consistent with the basic principles of mechanics. The moment-angular displacement of the model showed obvious nonlinear characteristics. Compared with the normal model, the atlanto-occipital fusion with atlantoaxial dislocation model showed reduced ROM of the atlanto-occipital joint under a torque of 1.5 N·m, while the ROM of the C1-C2 joint for the four conditions of flexion, posterior extention, lateral bending, and rotation under load, with the exception of rotating motion, was greatly increased compared with that of the normal model, which was in line with the actual clinical performance of the patient. CONCLUSION: The atlanto-occipital fusion with atlantoaxial dislocation model and the three-dimensional nonlinear finite element model of the normal occipital bone, atlas and axis were successfully established by finite element technology. The models had valid simulation and reliable kinematic characteristics, and could be used as a reliable tool to simulate clinical diseases.


Assuntos
Articulação Atlantoaxial , Adulto , Articulação Atlantoaxial/diagnóstico por imagem , Fenômenos Biomecânicos , Vértebras Cervicais , Simulação por Computador , Análise de Elementos Finitos , Humanos , Masculino , Amplitude de Movimento Articular
2.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 50(5): 765-767, 2019 Sep.
Artigo em Zh | MEDLINE | ID: mdl-31762249

RESUMO

A healthy 52-year-old woman presented with 10-days history of back pain. Neurologic testing failed to detect any functional deficits in the upper and lower extremities, and the patient had a full range of cervical spine motion without associated pain. Spinal CT and MRI revealed a well-circumscribed intradural mass located at conus medullaris. The operation of L1 hemilaminectomy was performed, and pathological examination discovered dilatation of sweat ducts and suggested the diagnosis of ectopic sweat duct ectasia. IHC staining in epithelia immunophenotype showed: pan-cytokeratin (PCK)(+), epithelia membrane antigen (EMA)(+), P63(+), cytokeratin 5/6 (CK5/6)(+), gross cystic disease fluid protein 15 (GCDFP15)(-). Intraspinal ectopic sweat duct ectasia is extremely rare, which has not been reported in the literature to date.


Assuntos
Dor nas Costas/etiologia , Medula Espinal/diagnóstico por imagem , Glândulas Sudoríparas/patologia , Dilatação Patológica , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade
3.
Eur Spine J ; 27(Suppl 3): 303-308, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-28695275

RESUMO

PURPOSE: Melanotic schwannoma (MS) is rare, accounting for less than 1% of primary peripheral nerve sheath tumors, and most often occurs in the paraspinal nerve roots. Intramedullary MS is exceedingly rare, and to the best of our knowledge, only nine cases have been reported in literature. METHODS AND RESULTS: We present a 47-year-old male, who underwent excision of thoracic intraspinal space-occupying lesion 6 years ago, as the 10th known case to date of intradural intramedullary MS that had a more invasive growth pattern than those reported before, and we review the diagnosis, clinicopathologic features, treatment and prognosis of intramedullary MS. CONCLUSIONS: Intramedullary MS' behavior is unpredictable and can have an aggressive clinical course such as recurrence and metastasis.


Assuntos
Neurilemoma/diagnóstico , Procedimentos Neurocirúrgicos/métodos , Medula Espinal/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Neurilemoma/patologia , Neurilemoma/cirurgia , Prognóstico , Medula Espinal/cirurgia
4.
Cochrane Database Syst Rev ; 12: CD008409, 2016 12 22.
Artigo em Inglês | MEDLINE | ID: mdl-28005271

RESUMO

BACKGROUND: Traumatic brain injury (TBI) is a leading cause of death and disability, and the identification of effective, inexpensive and widely practicable treatments for brain injury is of great public health importance worldwide. Progesterone is a naturally produced hormone that has well-defined pharmacokinetics, is widely available, inexpensive, and has steroidal, neuroactive and neurosteroidal actions in the central nervous system. It is, therefore, a potential candidate for treating TBI patients. However, uncertainty exists regarding the efficacy of this treatment. This is an update of our previous review of the same title, published in 2012. OBJECTIVES: To assess the effects of progesterone on neurologic outcome, mortality and disability in patients with acute TBI. To assess the safety of progesterone in patients with acute TBI. SEARCH METHODS: We updated our searches of the following databases: the Cochrane Injuries Group's Specialised Register (30 September 2016), the Cochrane Central Register of Controlled Trials (CENTRAL; Issue 9, 2016), MEDLINE (Ovid; 1950 to 30 September 2016), Embase (Ovid; 1980 to 30 September 2016), Web of Science Core Collection: Conference Proceedings Citation Index-Science (CPCI-S; 1990 to 30 September 2016); and trials registries: Clinicaltrials.gov (30 September 2016) and the World Health Organization (WHO) International Clinical Trials Registry Platform (30 September 2016). SELECTION CRITERIA: We included randomised controlled trials (RCTs) of progesterone versus no progesterone (or placebo) for the treatment of people with acute TBI. DATA COLLECTION AND ANALYSIS: Two review authors screened search results independently to identify potentially relevant studies for inclusion. Independently, two review authors selected trials that met the inclusion criteria from the results of the screened searches, with no disagreement. MAIN RESULTS: We included five RCTs in the review, with a total of 2392 participants. We assessed one trial to be at low risk of bias; two at unclear risk of bias (in one multicentred trial the possibility of centre effects was unclear, whilst the other trial was stopped early), and two at high risk of bias, due to issues with blinding and selective reporting of outcome data.All included studies reported the effects of progesterone on mortality and disability. Low quality evidence revealed no evidence of a difference in overall mortality between the progesterone group and placebo group (RR 0.91, 95% CI 0.65 to 1.28, I² = 62%; 5 studies, 2392 participants, 2376 pooled for analysis). Using the GRADE criteria, we assessed the quality of the evidence as low, due to the substantial inconsistency across studies.There was also no evidence of a difference in disability (unfavourable outcomes as assessed by the Glasgow Outcome Score) between the progesterone group and placebo group (RR 0.98, 95% CI 0.89 to 1.06, I² = 37%; 4 studies; 2336 participants, 2260 pooled for analysis). We assessed the quality of this evidence to be moderate, due to inconsistency across studies.Data were not available for meta-analysis for the outcomes of mean intracranial pressure, blood pressure, body temperature or adverse events. However, data from three studies showed no difference in mean intracranial pressure between the groups. Data from another study showed no evidence of a difference in blood pressure or body temperature between the progesterone and placebo groups, although there was evidence that intravenous progesterone infusion increased the frequency of phlebitis (882 participants). There was no evidence of a difference in the rate of other adverse events between progesterone treatment and placebo in the other three studies that reported on adverse events. AUTHORS' CONCLUSIONS: This updated review did not find evidence that progesterone could reduce mortality or disability in patients with TBI. However, concerns regarding inconsistency (heterogeneity among participants and the intervention used) across included studies reduce our confidence in these results.There is no evidence from the available data that progesterone therapy results in more adverse events than placebo, aside from evidence from a single study of an increase in phlebitis (in the case of intravascular progesterone).There were not enough data on the effects of progesterone therapy for our other outcomes of interest (intracranial pressure, blood pressure, body temperature) for us to be able to draw firm conclusions.Future trials would benefit from a more precise classification of TBI and attempts to optimise progesterone dosage and scheduling.


Assuntos
Lesões Encefálicas/tratamento farmacológico , Lesões Encefálicas/mortalidade , Fármacos Neuroprotetores/uso terapêutico , Progesterona/uso terapêutico , Avaliação da Deficiência , Escala de Coma de Glasgow , Humanos , Escala de Gravidade do Ferimento , Pressão Intracraniana/efeitos dos fármacos , Fármacos Neuroprotetores/efeitos adversos , Progesterona/efeitos adversos , Ensaios Clínicos Controlados Aleatórios como Assunto , Risco
5.
Ann Diagn Pathol ; 19(6): 403-8, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26547438

RESUMO

The objective of this study is to investigate ß-catenin expression in craniopharyngioma patients and determine its significance in predicting the prognosis of this disease. Fifty craniopharyngioma patients were enrolled in this study. Expression of ß-catenin in tumor specimens collected from these patients was examined through immunostaining. In addition, mutation of exon 3 in the ß-catenin gene, CTNNB1, was analyzed using polymerase chain reaction, denaturing high-pressure liquid chromatography, and DNA sequencing. Based on these results, we explored the association between membranous ß-catenin expression, clinical and pathologic characteristics, and prognoses in these patients. Of all craniopharyngioma specimens, 31 (62.0%) had preserved membranous ß-catenin expression, whereas the remaining 19 specimens (38.0%) displayed aberrant expression. Statistical analysis showed a significant correlation between aberrant membranous ß-catenin expression and CTNNB1 exon 3 mutation, as well as between aberrant membranous ß-catenin expression and the histopathologic type of craniopharyngioma and type of resection in our patient population. Furthermore, aberrant membranous ß-catenin expression was found to be associated with poor patient survival. Results of Kaplan-Meier survival analysis and Cox regression analysis further confirmed this finding. In conclusion, our study demonstrated that aberrant membranous ß-catenin expression was significantly correlated with poor survival in patients with craniopharyngioma. This raises the possibility for use of aberrant membranous ß-catenin expression as an independent risk factor in predicting the prognosis of this disease.


Assuntos
Membrana Celular/metabolismo , Craniofaringioma/metabolismo , Neoplasias Hipofisárias/metabolismo , beta Catenina/metabolismo , Adolescente , Adulto , Idoso , Biomarcadores Tumorais/metabolismo , Membrana Celular/patologia , Criança , Pré-Escolar , Craniofaringioma/mortalidade , Craniofaringioma/patologia , Feminino , Seguimentos , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neoplasias Hipofisárias/mortalidade , Neoplasias Hipofisárias/patologia , Prognóstico , Taxa de Sobrevida , Adulto Jovem
6.
BMC Surg ; 15: 6, 2015 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-25618576

RESUMO

BACKGROUND: Traumatic acute bilateral mass-occupying lesions (TABML) is a common entity in head injury, with high morbidity and mortality. Our aim in this study was to evaluate the benefits of different treatment options and the outcome predictors in patients with TABML. METHODS: From October 2010 to November 2012, a consecutive cohort of patients aged 16-70 years with TABML were retrospectively analyzed based on the clinical and radiological characteristics. Patients with TABML were included if admitted within 24 h after injury and were excluded if they presented with infratentorial lesions, unilateral lesions within the first 24 h after injury, or penetrating head injury. According to their treatment option, patients were divided into three groups: a conservative treatment group, a unilateral surgery group, and a bilateral surgery group. Outcomes were assessed using the Glasgow Outcome Scale (GOS). Binary logistic regression analysis was applied to determine the outcome predictors. RESULTS: Forty-seven patients (58.8%) had severe injuries (Glasgow Coma Scale score (GCS), 3-8) upon admission, and the overall mortality was 31.3% at 6 months post-injury. The mortality was 55.6% in patients who underwent conservative treatment (N = 18), 17.9% in unilateral surgery patients (N = 39), and 34.8% in the bilateral surgery group (N = 23). In the surgical group, the mortality was 53.3% (8 of 15) in those with a GCS of 3-5, which decreased steeply to 14.9% (7 of 47) of those with GCS ≥ 6. On logistic regression analysis, the absence of pupillary reactivity, disappearances of basal cisterns and conservative treatment were related to higher mortality. A lower initial GCS score was associated with an unfavorable outcome. Midline shift tended to be associated with mortality and an unfavorable outcome, although statistical analysis did not show a significant difference. CONCLUSIONS: TABML is suggestive of severe brain injury. As conservative treatment is always associated with a poorer outcome, surgery is advocated, especially in patients with a GCS score of ≥ 6. Whereas the prognostic value of midline shift might be limited because of the counter-mass effect in TABML, the GCS score, the pupillary reactivity, and particularly, the compression of basal cisterns should be emphasized.


Assuntos
Lesões Encefálicas/cirurgia , Encéfalo/cirurgia , Traumatismos Cranianos Fechados/cirurgia , Adolescente , Adulto , Idoso , Lesões Encefálicas/diagnóstico , Lesões Encefálicas/mortalidade , Lesões Encefálicas/terapia , Terapia Combinada , Feminino , Seguimentos , Escala de Coma de Glasgow , Traumatismos Cranianos Fechados/diagnóstico , Traumatismos Cranianos Fechados/mortalidade , Traumatismos Cranianos Fechados/terapia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
7.
Br J Neurosurg ; 29(5): 672-7, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26121426

RESUMO

BACKGROUND: Previous studies investigating the association between factor XIII-A subunit (FXIII-A) Val34Leu polymorphisms and intracerebral hemorrhage (ICH) had provided inconsistent results and no large systematic review or meta-analysis had been conducted regarding this issue. METHODS: We conducted a meta-analysis to confirm whether the FXIII-A Val34Leu polymorphisms increased the risk of ICH. Relevant studies were identified from the Pubmed, Medline, Embase, China National Knowledge Infrastructure, and Chinese Biomedicine Databases published up to September 2013. Summary odds ratios (ORs) and 95% confidence intervals (CIs) for FXIII-A Val34Leu polymorphisms and ICH were calculated in a fixed-effects model or a random-effects model when appropriate. We also carried out the stratified analyses and sensitivity analyses by region, source of control group, and sample size. RESULTS: Eight eligible studies were reviewed. As FXIII Val34Leu was absent or had a very low prevalence among East Asians, only six studies in Caucasians were analyzed, involving 564 cases and 1276 controls. Overall, the Leu allele of FXIII gene had a trend to slightly increased odds of having ICH, but there is no statistic significance (OR1.23, 95% CI 0.94-1.61, P = 0.13). The OR of genotypes Leu+(Leu/Leu or Leu/Val) for the risk of ICH was 1.21, 95% CI 0.98-1.50, P = 0.08. And the OR of recessive model genotypes was 1.53, 95% CI 0.81-2.88, P = 0.19. There was no difference of the association between the Leu allele of FXIII gene and risk of ICH in stratified analysis. CONCLUSIONS: Our meta-analysis suggests that there is no evidence for strong association between FXIII Val34Leu polymorphisms and ICH, but Leu allele of FXIII gene might slightly increase the risk of ICH in Caucasians. Since limited studies and subjects were included, larger scale association studies exploring the gene-gene interactions and gene-environment interactions are necessary to further validate the association.


Assuntos
Hemorragia Cerebral/epidemiologia , Hemorragia Cerebral/genética , Fator XIIIa/genética , Polimorfismo de Nucleotídeo Único/genética , Substituição de Aminoácidos , Estudos de Casos e Controles , Frequência do Gene , Genótipo , Humanos , Prevalência
8.
J Craniofac Surg ; 25(2): 697-9, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24621727

RESUMO

The recurrence and regrowth of craniofacial fibrous dysplasia (FD) along the repaired titanium mesh (TM) after total removal are extremely rare. A 22-year-old man was admitted to our hospital complaining of progressive proptosis and sudden vision loss of the right eye. Craniofacial FD was histologically diagnosed 3 years ago, and the involved frontal bone was totally removed and reconstructed with TM in his first surgery. Based on previous medical history, radiographic features, and clinical findings, the recurrence was considered, and the patient underwent surgical treatment. He had an uneventful postoperative course, and during the follow-up, his proptosis was gradually relieved, and the visual acuity also improved. In this article, we present the regrowth of craniofacial FD into TM and describe the clinical features, mechanism, and treatment of this condition.


Assuntos
Ossos Faciais/patologia , Ossos Faciais/cirurgia , Displasia Fibrosa Poliostótica/patologia , Falha de Prótese , Crânio/patologia , Crânio/cirurgia , Telas Cirúrgicas , Titânio , Exoftalmia/patologia , Exoftalmia/cirurgia , Displasia Fibrosa Poliostótica/cirurgia , Osso Frontal/patologia , Osso Frontal/cirurgia , Humanos , Masculino , Órbita/patologia , Órbita/cirurgia , Recidiva , Reoperação , Adulto Jovem
9.
Zhonghua Yi Xue Za Zhi ; 94(19): 1444-7, 2014 May 20.
Artigo em Zh | MEDLINE | ID: mdl-25143159

RESUMO

OBJECTIVE: To explore the clinical classification and selection of surgical approaches for cervical spinal dumbbell tumors. METHODS: The clinical data of 87 patients with cervical spinal dumbbell tumors undergoing surgical operations from January 2005 to December 2012 at our hospital were analyzed retrospectively. According to the size of inner and outer parts of tumors and the presence or absence of spinal bone damage, the cervical spinal dumbbell tumors were divided into 4 types of intraspinal predominant (I, n = 48), extraspinal predominant (II, n = 1), intrapinal and extraspinal without damage of spinal bone (III, n = 15) and intrapinal and extraspinal type with damage of spinal bone (IV, n = 7). Different surgical approaches were selected on the basis of tumor classification: posterior median-hemilamina approaches for type I tumors, lateral-muscle gap approaches for type II tumors, ateral-muscle gap-hemilamina or lateral-muscle gap-posterior median-hemilamina approaches for type III tumors, posterior far lateral-muscle gap-hemilamina or posterior median-muscle gap-hemilamina approaches plus posterior occipital cervical or cervical spinal bone graft fusion and internal fixation for type IV tumors. RESULTS: Among them, 83 cases underwent total resection and another 4 subtotal resection in one-stage operation. The postoperative follow-up period had a range of 9 months to 6 years (mean, 3.2 years). There was no recurrence of tumors for total resection and 1 case of tumor recurrence for subtotal resection. During the follow-up period, the clinical manifestations of 85 patients improved while another 2 deteriorated. And there was no occurrence of spinal deformity. CONCLUSION: Clinical classification of cervical spinal dumbbell tumor plays an important guiding role in the selection of surgical approaches. Adopting appropriate surgical approaches based on tumor type can not only improve the rate of total resection of tumor but also reduce the incidence of postoperative spinal deformity.


Assuntos
Vértebras Cervicais , Procedimentos Neurocirúrgicos/métodos , Neoplasias da Coluna Vertebral/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias da Coluna Vertebral/classificação , Neoplasias da Coluna Vertebral/patologia , Resultado do Tratamento , Adulto Jovem
10.
Cell Metab ; 36(1): 159-175.e8, 2024 01 02.
Artigo em Inglês | MEDLINE | ID: mdl-38113887

RESUMO

The gut microbiome has been found to play a crucial role in the treatment of multiple myeloma (MM), which is still considered incurable due to drug resistance. In previous studies, we demonstrated that intestinal nitrogen-recycling bacteria are enriched in patients with MM. However, their role in MM relapse remains unclear. This study highlights the specific enrichment of Citrobacter freundii (C. freundii) in patients with relapsed MM. Through fecal microbial transplantation experiments, we demonstrate that C. freundii plays a critical role in inducing drug resistance in MM by increasing levels of circulating ammonium. The ammonium enters MM cells through the transmembrane channel protein SLC12A2, promoting chromosomal instability and drug resistance by stabilizing the NEK2 protein. We show that furosemide sodium, a loop diuretic, downregulates SLC12A2, thereby inhibiting ammonium uptake by MM cells and improving progression-free survival and curative effect scores. These findings provide new therapeutic targets and strategies for the intervention of MM progression and drug resistance.


Assuntos
Microbioma Gastrointestinal , Mieloma Múltiplo , Humanos , Bortezomib/farmacologia , Bortezomib/uso terapêutico , Bortezomib/metabolismo , Mieloma Múltiplo/tratamento farmacológico , Mieloma Múltiplo/metabolismo , Linhagem Celular Tumoral , Proteínas de Membrana/metabolismo , Quinases Relacionadas a NIMA/metabolismo , Quinases Relacionadas a NIMA/uso terapêutico , Membro 2 da Família 12 de Carreador de Soluto/farmacologia
11.
Childs Nerv Syst ; 29(4): 635-41, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23239253

RESUMO

OBJECTIVE: This study was undertaken to assess the clinical and radiological characteristics of children with traumatic extradural hematoma (TEDH), and factors affecting the initial neurological status and outcome. METHODS: Medical records of 269 consecutive children with TEDH from 2005 to 2012 were retrospectively reviewed, factors affecting the initial neurological status and outcomes were explored using univariate and multivariate analysis. RESULTS: There were 166 boys and 103 girls (average age: 7.0 years). Fall from a height (59 %) was the most common mechanism of head injury. With increasing age, an increase of motor-vehicle accident and assault was noted. Among the children 85.5 % experienced a Glasgow Coma Scale (GCS) of 13-15, 9.7 % with GCS 9-12, and 4.8 % with GCS 3-8. The main clinical manifestations were headache, vomiting and nausea, and conscious disturbance. The main locations were the temporal, temporoparietal, and frontal regions. The 97.4 % saw a favorable outcome, whereas 2.6 % had a poor outcome (overall mortality: 1.1 %). CONCLUSION: Many factors influenced the prognosis; the most important factors affecting prognosis were the initial neurological condition and secondary brain edema, while the initial neurological status were associated with pupillary abnormality, clinical progression, the number and volume of TEDH, and midline shift. Although the outcome was excellent in most cases, early diagnosis and surgical evacuation before irreversible brain damage was important to lower mortality for those massive TEDHs.


Assuntos
Acidentes por Quedas , Acidentes de Trânsito , Maus-Tratos Infantis , Traumatismos Craniocerebrais/diagnóstico , Hematoma Epidural Craniano/diagnóstico , Adolescente , Fatores Etários , Criança , Pré-Escolar , Traumatismos Craniocerebrais/complicações , Traumatismos Craniocerebrais/cirurgia , Feminino , Hematoma Epidural Craniano/etiologia , Hematoma Epidural Craniano/cirurgia , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico , Estudos Retrospectivos , Fatores Sexuais , Resultado do Tratamento
12.
Neurol India ; 61(1): 35-9, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23466837

RESUMO

BACKGROUND: Recent genome-wide and locus-specific association studies identified RNF213 as an important Moyamoya disease (MMD) susceptibility gene. But the results of these studies are limited by the few subjects, different methodologies and ethnicities. AIMS: To investigate the association between p.R4810K (rs 112735431, ss179362673; G > A) and p.R4859K (c.14576 G > A) polymorphisms of the RNF213 gene and MMD susceptibility. SETTINGS AND DESIGN: We conducted a meta-analysis to evaluate the association. MATERIALS AND METHODS: Two investigators independently searched the PubMed, Medline, and Embase databases for studies published before October 2012. For included studies, we performed meta-analyses using Cochrane RevMan software. STATISTICAL ANALYSIS: Summary odds ratios (ORs) and 95% confidence intervals (CIs) for RNF213 p.R4810K and p.R4859K polymorphisms; MMD were calculated in a fixed-effects model and a random effects model whenever appropriate. RESULTS: Five eligible studies were reviewed and analyzed, which included two studies for p.R4810K polymorphisms (421 cases and 1214 controls) and three studies for p.R4859K polymorphisms (398 cases and 765 controls). Overall, the pooled results indicated that both p.R4810K polymorphisms and p.R4859K polymorphisms were associated with MMD risk (OR 92.03, 95% CI 54.06-156.65, P < 0.00001 and OR 157.53, 95% CI 85.37-290.7, P < 0.00001, respectively). Stratified analyses by ethnicity revealed the population attributable risks in the Japanese and Korean populations were larger than that in the Chinese population (P =0.0006). CONCLUSIONS: This meta-analysis demonstrated that there are strong associations between p.R4859K and p.R4810K polymorphisms of the RNF213 gene and MMD. The discoveries of its association with MMD may help in early diagnosis and prevention of this disease. Further study is still necessary to clarify the biochemical function and pathological role of RNF213 in MMD.


Assuntos
Predisposição Genética para Doença , Doença de Moyamoya/genética , Ubiquitina-Proteína Ligases/genética , Adenosina Trifosfatases , Povo Asiático/genética , Humanos , Polimorfismo Genético
13.
Front Genet ; 14: 1270278, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38028630

RESUMO

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder caused by defects in motile ciliary function and/or structure. Outer dynein arm docking complex subunit 1 (ODAD1) is an important component of the outer dynein arm docking complex (ODA-DC). To date, 13 likely pathogenic mutations of ODAD1 have been reported. However, the pathogenesis of ODAD1 mutations remains elusive. To investigate the pathogenesis of splice-site mutations in ODAD1 discovered in this study and those reported previously, molecular and functional analyses were performed. Whole-exome sequencing revealed a compound mutation in ODAD1 (c.71-2A>C; c.598-2A>C) in a patient with PCD, with c.598-2A>C being a novel mutation that resulted in two mutant transcripts. The compound mutation in ODAD1 (c.71-2A>C; c.598-2A>C) led to aberrant splicing that resulted in the absence of the wild-type ODAD1 and defects of the outer dynein arm in ciliary axonemes, causing a decrease in ciliary beat frequency. Furthermore, we demonstrated that the truncated proteins resulting from splice-site mutations in ODAD1 could retain partial function and inhibit the interaction between wild-type ODAD1 and ODAD3. The results of this study expand the mutational and clinical spectrum of PCD, provide more evidence for genetic counseling, and offer new insights into gene-based therapeutic strategies for PCD.

14.
Crit Care ; 16(5): R198, 2012 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-23078672

RESUMO

INTRODUCTION: The previous meta-analysis on the use of endothelin-receptor antagonists (ETRAs) to treat aneurysmal subarachnoid hemorrhage (SAH) has become outdated due to recently published phase 3 clinical trials. An up-to-date meta-analysis is needed to provide the best available evidence for the efficacy of ETRAs for aneurysmal SAH. METHODS: We performed a systematic review and meta-analysis of published randomized controlled trials that investigate efficacy of ETRAs in patients with aneurysmal SAH. Mortality, unfavorable outcome, delayed ischemic neurological deficit (DIND), delayed cerebral infarction (DCI), angiographic vasospasm and adverse events were analyzed. Meta-analysis was performed in terms of the risk ratio (RR) and 95% confidence interval (CI). RESULTS: Five eligible studies were reviewed and analyzed, involving 2,595 patients. The pooled RRs of mortality and unfavorable outcome after SAH were 1.03 (95% CI = 0.77 to 1.36) and 1.07 (95% CI = 0.93 to 1.22), respectively. The pooled RRs were 0.87 (95% CI = 0.74 to 1.03) for DCI, 0.77 (95% CI = 0.66 to 0.90) for DIND, and 0.66 (95% CI = 0.57 to 0.77) for angiographic vasospasm. There were significant increases in lung complications (RR = 1.80, 95% CI = 1.55 to 2.09), hypotension (RR = 2.42, 95% CI = 1.78 to 3.29) and anemia (RR = 1.47, 95% CI = 1.19 to 1.83) in patients administered ETRAs. CONCLUSION: There is no evidence that ETRAs could benefit clinical outcome in patients with SAH. Owing to the increased adverse events, further clinical trials of ETRAs in SAH patients should be more carefully formulated and designed. The present results also suggest that DCI may be a better outcome measure than vasospasm and DIND in SAH clinical trials and observational studies.


Assuntos
Antagonistas dos Receptores de Endotelina/uso terapêutico , Aneurisma Intracraniano/tratamento farmacológico , Aneurisma Intracraniano/mortalidade , Hemorragia Subaracnóidea/tratamento farmacológico , Hemorragia Subaracnóidea/mortalidade , Antagonistas dos Receptores de Endotelina/efeitos adversos , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto/mortalidade
15.
Cochrane Database Syst Rev ; 10: CD008409, 2012 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-23076947

RESUMO

BACKGROUND: Traumatic brain injury (TBI) is a leading cause of death and disability. Progesterone is a potential neuroprotective drug to treat patients with TBI. OBJECTIVES: To assess the effectiveness and safety of progesterone in people with acute TBI. SEARCH METHODS: We searched: the Cochrane Injuries Group's Specialised Register (13 July 2012), Cochrane Central Register of Controlled Trials (CENTRAL) (Issue 7, 2012), MEDLINE (Ovid) (1950 to August week 1, 2012), EMBASE (Ovid) (1980 to week 32 2012), LILACS (12 August 2012), Zetoc (13 July 2012), Clinicaltrials.gov (12 August 2012), Controlled-trials.com (12 August 2012). SELECTION CRITERIA: We included published and unpublished randomised controlled trials (RCTs) of progesterone versus no progesterone (or placebo) for the treatment of people with acute TBI. DATA COLLECTION AND ANALYSIS: Two review authors independently screened search results to identify the full texts of potentially relevant studies for inclusion. From the results of the screened searches two review authors independently selected trials meeting the inclusion criteria, with no disagreement. MAIN RESULTS: Three studies were included with a total of 315 people. Two included studies were of high methodological quality, with low risk of bias in allocation concealment, blinding and incomplete outcome data. One study did not use blinding and had unclear risk of bias in allocation concealment and incomplete outcome data. All three studies reported the effects of progesterone on mortality. The pooled risk ratio (RR) for mortality at end of follow-up was 0.61, 95% confidence interval (CI) 0.40 to 0.93. Three studies measured disability and found the RR of death or severe disability in patients treated with progesterone to be 0.77, 95% CI 0.62 to 0.96. Data from two studies showed no difference in mean intracranial pressure or the rate of adverse and serious adverse events among people in either group. One study presented blood pressure and temperature data, and there were no differences between the people in the progesterone or control groups. There was no substantial evidence for the presence of heterogeneity. AUTHORS' CONCLUSIONS: Current clinical evidence from three small RCTs indicates progesterone may improve the neurologic outcome of patients suffering TBI. This evidence is still insufficient and further multicentre randomised controlled trials are required.


Assuntos
Lesões Encefálicas/tratamento farmacológico , Lesões Encefálicas/mortalidade , Fármacos Neuroprotetores/uso terapêutico , Progesterona/uso terapêutico , Avaliação da Deficiência , Escala de Coma de Glasgow , Humanos , Pressão Intracraniana/efeitos dos fármacos , Ensaios Clínicos Controlados Aleatórios como Assunto , Risco
16.
Acta Neurochir (Wien) ; 154(4): 739-45, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22362048

RESUMO

BACKGROUND: Pure epidural cavernous hemangiomas without bony involvement are rare, representing 4% of all spinal epidural tumors. Most of these are case reports and are easily misdiagnosed. METHODS: Herein nine patients (male:female, 5:4, average age: 51 years) with symptomatic pure epidural spinal cavernous hemangioma between 2005 and 2011 were treated, and the clinical, radiological, and pathological records, treatment, and prognosis were discussed. RESULTS: All patients experienced a slowing progressive clinical course, except for one with intralesional hemorrhage. Clinical manifestations included back or radiating pain, sensorimotor deficits, and sphincters disturbance. Eight lesions were isointense on T1- and hyperintense on T2-weighted images with homogenously strongly enhancement and one was mixed signal with heterogeneous enhancement because of intratumoral hemorrhage. Hemilaminotomoy or laminotomy was performed and total resection was achieved. All patients experienced a gradual neurological improvement with no recurrence. CONCLUSIONS: Spinal epidural cavernous hemangioma is a benign vascular malformation that should be excluded in the diagnosis of epidural lesion. Total surgical resection is recommended and usually results in a good prognosis.


Assuntos
Neoplasias Epidurais/patologia , Epilepsia Neonatal Benigna/patologia , Hemangioma Cavernoso do Sistema Nervoso Central/patologia , Adulto , Idoso , Neoplasias Epidurais/cirurgia , Epilepsia Neonatal Benigna/cirurgia , Feminino , Seguimentos , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Resultado do Tratamento
17.
Neurol India ; 60(3): 299-303, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22824687

RESUMO

BACKGROUND: Computed tomography angiography (CTA) is a rapid, non-invasive procedure with a small risk for evaluating patients with various types of strokes. But the effectiveness of CTA in detecting the etiology of spontaneous intracerebral hemorrhage (SICH) has not been well established. AIM: To evaluate the diagnostic value of CTA for detecting underlying vascular abnormalities in patients with SICH. SETTINGS AND DESIGN: This is a comparative study to evaluate the diagnostic accuracy of CTA and digital subtraction angiography (DSA) in SICH. We also did a meta-analysis, combining our results with those of all previous studies to determine a more precise estimate of CTA in detecting the etiology of SICH.. MATERIALS AND METHODS: Between July 2009 and October 2011, CTA and DSA were routinely performed in consecutive young patients (age between 18 and 45 years) with acute non-hypertensive SICH. Imaging data were prospectively stored in the database for analysis. STATISTICAL ANALYSIS: The sensitivity, specificity, positive predictive values (PPV), negative predictive values (NPV), and accuracy were used for evaluating the diagnostic value of CTA for vascular lesion. RESULTS: This study included 92 patients. The sensitivity, specificity, PPV, NPV, and accuracy of CTA for detecting DSA-positive pathologies were 94.6%, 100%, 100%, 96.5%, and 97.8%, respectively. A total of 544 cases were included for meta-analysis. The pooled sensitivity, specificity, PPV, NPV, and accuracy of CTA for detecting the etiology in SICH were 95.4%, 98.3%, 96.9%, 97.4%, and 97.2%, respectively. There was no substantial heterogeneity between the studies. CONCLUSIONS: CTA has high PPV and NPV for vascular pathologies. It should be performed as the initial vascular investigation for patients with acute SICH. Future technical advancement of CTA is still needed to eliminate the false-negative results.


Assuntos
Angiografia Digital/métodos , Hemorragia Cerebral/diagnóstico , Veias Cerebrais/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Adolescente , Adulto , Artérias Cerebrais/diagnóstico por imagem , Artérias Cerebrais/patologia , Veias Cerebrais/patologia , Comparação Transcultural , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Curva ROC , Sensibilidade e Especificidade , Adulto Jovem
18.
Neurol India ; 70(2): 764-766, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35532655

RESUMO

Introduction: Giant cell tumor of the tendon sheath (GCTTS) is commonly seen in the appendicular skeleton, and rarely arises from the axial skeleton. We describe a rare case of GCTTS in an adolescent in the upper cervical spine. Case Presentation: A previously healthy 16-year-old boy presented with a 6-month history of numbness of right upper extremity, and had experienced a neck pain 4 months ago. Spinal MRI demonstrated a small syrinx at C2 level and a well-circumscribed extradural mass with contrast enhancement extending from the posterior arch of C1 to C2. The extradural mass was totally resected, and the syrinx underwent clinical and imaging surveillance. Discussion: GCTTS should be considered in the differential diagnosis of the axial skeletal lesion although very rare. Gross-total resection is advocated in GCTTS of the upper cervical spine, and subtotal resection with meticulous lesion monitoring should be performed in unresectable cases.


Assuntos
Tumor de Células Gigantes de Bainha Tendinosa , Tumores de Células Gigantes , Adolescente , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/patologia , Vértebras Cervicais/cirurgia , Tumor de Células Gigantes de Bainha Tendinosa/patologia , Tumor de Células Gigantes de Bainha Tendinosa/cirurgia , Tumores de Células Gigantes/diagnóstico por imagem , Tumores de Células Gigantes/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Cervicalgia/etiologia
19.
Crit Care ; 15(5): 193, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22017925

RESUMO

Recently, a multicenter randomized controlled trial (RCT) by Cooper and colleagues indicated that decompressive craniectomy (DC) may be associated with a worse functional outcome in patients with diffuse traumatic brain injury (TBI), although DC can immediately and constantly reduce intracranial pressure (ICP). As this trial is well planned and of high quality, the unexpected result is meaningful. However, the evidence of the study is insufficient and the effect of DC in severe TBI is still uncertain. Additional multicenter RCTs are necessary to provide class I evidence on the role of DC in the treatment of refractory raised ICP after severe TBI.


Assuntos
Lesões Encefálicas/cirurgia , Craniectomia Descompressiva/estatística & dados numéricos , Índice de Gravidade de Doença , Lesões Encefálicas/patologia , Craniectomia Descompressiva/tendências , Humanos , Estudos Multicêntricos como Assunto/tendências , Ensaios Clínicos Controlados Aleatórios como Assunto/tendências , Resultado do Tratamento
20.
Cochrane Database Syst Rev ; (1): CD008409, 2011 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-21249708

RESUMO

BACKGROUND: Traumatic brain injury is a leading cause of death and disability. Progesterone is a potential neuroprotective drug to treat patients with traumatic brain injury. OBJECTIVES: To assess the effectiveness and safety of progesterone in people with acute traumatic brain injury (TBI). SEARCH STRATEGY: We searched: the Cochrane Injuries Group's Specialised Register (to April 2010), Cochrane Central Register of Controlled Trials 2010, Issue 1 (The Cochrane Library), MEDLINE (Ovid) (1950 to April week 1 2010), EMBASE (Ovid) (1980 to week 14 2010), LILACS (to 17 April 2010 ), Zetoc (to 21 April 2010), Clinicaltrials.gov (17 April 2010 ), Controlled-trials.com (17 April 2010). SELECTION CRITERIA: We included published and unpublished randomised controlled trials (RCTs) of progesterone versus no progesterone (or placebo) for the treatment of acute TBI. DATA COLLECTION AND ANALYSIS: Two authors independently screened search results to identify the full texts of potentially relevant studies for inclusion. From the results of the screened searches two authors independently selected trials meeting the inclusion criteria, with no disagreement. MAIN RESULTS: Three studies were included with 315 patients. All three studies reported the effects of progesterone on mortality. The pooled relative risk (RR) for mortality at end of follow-up is 0.61, 95% confidence interval (CI) 0.40 to 0.93. Three studies measured disability and found the RR of death or severe disability in patients treated with progesterone was 0.77, 95% confidence interval (CI) 0.62 to 0.96. Two studies presented data on intracranial pressure and adverse events. One study presented blood pressure and temperature data. There was no substantial evidence for the presence of heterogeneity. AUTHORS' CONCLUSIONS: Current clinical evidence from three small RCTs indicates progesterone may improve the neurologic outcome of patients suffering TBI. This evidence is still insufficient and further multicentre randomised controlled trials are required.


Assuntos
Lesões Encefálicas/tratamento farmacológico , Lesões Encefálicas/mortalidade , Fármacos Neuroprotetores/uso terapêutico , Progesterona/uso terapêutico , Avaliação da Deficiência , Escala de Coma de Glasgow , Humanos , Pressão Intracraniana/efeitos dos fármacos , Ensaios Clínicos Controlados Aleatórios como Assunto , Risco
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA