International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci

The risk of posttraumatic stress disorder (PTSD) following trauma is heritable, but robust common variants have yet to be identified. In a multi-ethnic cohort including over 30,000 PTSD cases and 170,000 controls we conduct a genome-wide association study of PTSD. We demonstrate SNP-based heritability estimates of 5–20%, varying by sex. Three genome-wide significant loci are identified, 2 in European and 1 in African-ancestry analyses. Analyses stratified by sex implicate 3 additional loci in men. Along with other novel genes and non-coding RNAs, a Parkinson’s disease gene involved in dopamine regulation, PARK2, is associated with PTSD. Finally, we demonstrate that polygenic risk for PTSD is significantly predictive of re-experiencing symptoms in the Million Veteran Program dataset, although specific loci did not replicate. These results demonstrate the role of genetic variation in the biology of risk for PTSD and highlight the necessity of conducting sex-stratified analyses and expanding GWAS beyond European ancestry populations. © 2019, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply

Guidelines for management of ischaemic stroke and transient ischaemic attack 2008

This article represents the update of the European Stroke Initiative Recommendations for Stroke Management. These guidelines cover both ischaemic stroke and transient ischaemic attacks, which are now considered to be a single entity. The article covers referral and emergency management, Stroke Unit service, diagnostics, primary and secondary prevention, general stroke treatment, specific treatment including acute management, management of complications, and rehabilitation

Hyperventilation syndrome: diagnosis and reassurance

This article provides an overview of hyperventilation syndrome (HVS). Hyperventilation is to breathe in excess of metabolic requirements; in the absence of an underlying organic cause, it is defined as HVS. Alternative terms used in literature are panic or anxiety attack, panic or anxiety disorder, dysfunctional breathing and breathing pattern disorder. This article explores HVS signs and symptoms beyond the familiar clinical signposts of tachypnoea, chest tightness, paraesthesia and anxiety. It will also discuss differential diagnoses and pre-hospital treatment of HVS, focusing on reassuring patients and assisting them in establishing a good respiratory pattern. Patients with HVS use a significant amount of hospital and emergency service resources, ideally placing paramedics to diagnose and treat HVS in the pre-hospital setting to avoid unnecessary and costly hospital admissions. Further research is needed to evaluate the pre-hospital prevalence and diagnostic accuracy of HVS, identify clear diagnostic criteria and design screening tools

Espondilolistese traumática do áxis: epidemiologia, conduta e evolução Traumatic spondylolisthesis of the axis: epidemiology, management and outcome

OBJETIVO: Avaliar casos de espondilolistese traumática do áxis e descrevê-los com relação à epidemiologia, classificação, déficit neurológico, tempo de consolidação e tratamento. MÉTODO: Análise retrospectiva dos prontuários dos pacientes tratado de 2002 a 2010 no IOT-HCFMUSP. Critério de inclusão: fratura da pars interarticularis de C2. RESULTADOS: 68% dos pacientes do sexo masculino com idade média de 39,1 anos. Utilizamos a classificação de Effendi, modificada por Levine-Edwards. Observamos fratura do tipo I em cinco pacientes (31,2%) e tipo II em oito pacientes (50%). Apenas três pacientes (18%) apresentaram fratura do tipo IIa. Não houve casos do tipo III. Mecanismo: Oito acidentes automobilísticos e quatro quedas. Outros mecanismos: atropelamento e mergulho. Tratamento: tração com halo craniano em onze pacientes. Foram usados gesso minerva e halo-gesso. Tempo de consolidação: 3,6 meses. Tempo de seguimento: 9,6 meses. DISCUSSÃO: Nossos resultados confirmam que fratura do enforcado apresenta bom prognóstico. Não houve necessidade de cirurgia em nenhum caso. A incidência de déficit neurológico é baixa. Nenhum paciente apresentou fratura instável, tipo III. CONCLUSÃO: Este trabalho sugere que a espondilolistese traumática do áxis continua sendo uma lesão satisfatoriamente tratada de forma conservadora na maioria dos casos. Nível de Evidência IV, Série de casos.<br>OBJECTIVE: To evaluate cases of traumatic spondylolisthesis of the axis and describe them in relation to epidemiology, classification, neurological deficit, healing time and treatment method. METHOD: A retrospective analysis of the medical records of patients treated between 2002 and 2010 at IOT-FMUSP. Inclusion criteria: pars interarticularis fracture of C2. RESULTS: 68% were male patients, with a mean age of 39.1 years. We used the classification by Effendi, modified by Levine-Edwards. Type I fractures were observed in five patients (31.2%) and type II in eight patients (50%). Only three patients (18%) had type IIa fracture. There were no cases of type III. Mechanism: Eight car accidents and four falls. Other mechanisms: being run over, and diving accidents. Treatment with halo traction was used in eleven patients, using minerva cast and halo-cast. Healing time: 3.6 months. Follow-up time: 9.6 months. DISCUSSION: In general, hangman fracture has a good prognosis, which is confirmed by our results. There was no need for surgery in any of the cases. The incidence of neurological deficit is low. No patient had unstable fracture (type III). CONCLUSION: This paper suggests that traumatic spondylolisthesis of the axis continues to be an injury that is successfully treated by conservative treatment in most cases. Level of Evidence -IV, Case series

Transpedicular screw fixation for type II Hangman’s fracture: a motion preserving procedure

Opinions have varied regarding the optimal treatment of an unstable Hangman’s fracture. C2 pedicle screw instrumentation is a biomechanically strong fixation which although done through a simple posterior approach, is a technically demanding procedure. This prospective, non-randomized multicentre study included 15 consecutive patients with displaced type II traumatic spondylolisthesis of the axis. There were nine males and six females with a mean age of 37 years at surgery. The cause of injury was a road traffic accident in 11 patients and a fall from height in 4 patients. All patients had a single stage reduction and direct transpedicular screw fixation through the C2 pedicles. During follow-up, clinical evaluation and plain X-rays were performed at each visit; at 6-month follow-up, additional dynamic lateral flexion/extension views and a CT scan were performed. The average follow-up period was 32 months (range 25–56 months). At final follow-up, all patients were asymptomatic and regained a good functional outcome with no limitation of range of motion; all the patients showed solid union with no implant failure. There were no neurological complications. At 6-month follow-up, CT evaluation showed fusion in all patients and an adequate position of 28 screws. Two pedicle screws (6.6%) showed minimal (defined as <2 mm) intrusion; one into the spinal canal and the other into the vertebral foreamen. Transpedicular screw fixation through the C2 pedicles is a safe and effective method in treating type II traumatic spondylolisthesis of the axis resulting in good clinical and radiological outcomes. Adequate reduction was achieved and motion segments were preserved with its use