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BACKGROUND: Far lateral (extraforaminal) disc herniations comprise approximately 10% of symptomatic lumbar disc herniations. They represent operative challenges due to accessibility and surgical unfamiliarity. Surgical strategies in the past have included open discectomy and posterior lumbar interbody fusion. Tubular microdiscectomies have gained traction due to their minimally invasive advantages, including reduced morbidity, pain and length of hospital stay. METHODS: We report our retrospective single institution consecutive case series of tubular far lateral microdiscectomies. One hundred and seventy-six patients were operated on over an eight-year period. Clinical outcomes were assessed after institutional ethics approval. We additionally describe our surgical technique with an illustrative video case. RESULTS: Over a mean follow-up of 21 weeks, 77% of patients had good or excellent clinical outcomes according to the MacNab criteria. 12% of patients underwent reoperation at the index level for symptom recurrence or persistence. Mean length of hospital stay was 1.3 days. There was a 1% rate of both postoperative haematoma and infection. Mean operation duration was 86 minutes. CONCLUSION: This case series represents the largest currently reported in the literature. Minimally invasive microdiscectomies performed through tubes allow for precise localisation, reduced tissue disruption and favourable clinical outcomes. Our results appear consistent with a review of the literature, demonstrating the safety and efficacy of this approach.
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This study aimed to assess the self-reported frequency and severity of gastrointestinal symptoms (GIS) at rest and around rugby training and match play in male and female rugby union players. An online questionnaire was sent to registered rugby union players (sevens or fifteens). Thirteen GIS were assessed alongside perceptions of appetite around rugby and rest using Likert and visual analog scales. Questions investigating a range of medical and dietary factors were included. Three hundred and twenty-five players (male n=271, female n=54) participated in the study. More frequent GIS (at least one GIS experienced weekly/more often) was reported by players at rest (n=203; 62%) compared to around rugby (n=154; 47%). The overall severity of GIS was low (mild discomfort), but a portion of players (33%) did report symptoms of moderate severity around rugby. Female players reported more frequent and severe symptoms compared to male counterparts (p<0.001). Self-reported appetite was significantly lower after matches compared to training. There were no dietary or medical factors associated with GIS severity scores. This study describes GIS characteristics in male and female rugby union players. Half of the players assessed experienced some form of GIS that may affect nutrition, training, or performance, and should thus be a consideration for practitioners supporting this cohort.
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Futebol Americano , Humanos , Masculino , Feminino , Rugby , Estado NutricionalRESUMO
INTRODUCTION: Peri-insular hemispherotomy (PIH) is a hemispheric separation technique under the broader hemispherotomy group, a surgical treatment for patients with intractable epilepsy. Hemispherotomy techniques such as the PIH, vertical parasagittal hemispherotomy (VPH), and modified-lateral hemispherotomy are commonly assessed together, despite significant differences in anatomical approach and patient selection. We aim to describe patient selection, outcomes, and complications of PIH in its own right. METHODS: A systematic review of the literature, in accordance with the Preferred Reporting Items of Systematic Reviews and Meta-Analyses (PRISMA) guidelines, was conducted, with searches of the PubMed and Embase databases. A local series including patients receiving PIH and followed up at the Queensland Children's Hospital between 2014 and 2020 was included. RESULTS: Systematic review of the literature identified 393 patients from 13 eligible studies. Engel class 1 outcomes occurred in 82.4% of patients, while 8.6% developed post-operative hydrocephalus. Hydrocephalus was most common in the youngest patient cohorts. Developmental pathology was present in 114 (40.8%) patients, who had fewer Engel 1 outcomes compared to those with acquired pathology (69.1% vs. 83.7%, p = 0.0167). The local series included 13 patients, 11/13 (84.6%) had Engel class 1 seizure outcomes. Post-operative hydrocephalus occurred in 2 patients (15.4%), and 10/13 (76.9%) patients had worsened neurological deficit. CONCLUSION: PIH delivers Engel 1 outcomes for over 4 in 5 patients selected for this procedure, greater than described in combined hemispherectomy analyses. It is an effective technique in patients with developmental and acquired pathologies, despite general preference of VPH in this patient group. Finally, very young patients may have significant seizure and cognitive benefits from PIH; however, hydrocephalus is most common in this group warranting careful risk-benefit assessment. This review delivers a dedicated PIH outcomes analysis to inform clinical and patient decision-making.
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Epilepsia Resistente a Medicamentos , Hemisferectomia , Hidrocefalia , Criança , Humanos , Resultado do Tratamento , Convulsões/complicações , Epilepsia Resistente a Medicamentos/cirurgia , Hemisferectomia/efeitos adversos , Hemisferectomia/métodos , Hidrocefalia/cirurgia , Hidrocefalia/complicaçõesRESUMO
BACKGROUND: Vagus nerve stimulation (VNS) therapy was first approved in the mid-1990s in the USA, Europe and Australia, with demonstrable efficacy in paediatric populations. Benefit in seizure frequency reduction can be observed up to 2 years post-intervention; however, few studies assess outcomes beyond this period. Furthermore, paediatric cohort sizes are small, limiting generalisability of outcome assessments. We evaluate VNS insertion outcomes and complications or side-effects in a large paediatric cohort, over a 20-year period from Queensland's first VNS insertion. METHODS: A retrospective review was conducted of all paediatric VNS insertions at the Queensland Children's Hospital (QCH) and the Mater Children's Hospital/Mater Children's Private Hospital (MCH/MCPH) Brisbane. A minimum of 1-year follow-up from 1999 to 2020 was required for inclusion. Patients were assessed on demographics, epilepsy details, seizure outcomes and complications or side-effects. RESULTS: In this extended follow-up cohort (76 patients, 7.2 ± 5.3 years), 51.3% of patients had ≥ 50% seizure frequency reduction, while 73.7% experienced an Engel III outcome (worthwhile benefit) or better. Eleven patients (14.9%) were seizure-free at follow-up, and 81.6% retained long-term therapy. Stimulation-related side-effects are common (17.1%) but rarely result in stimulation cessation (3.9%). Cessation occurred in 14 patients (18.4%) and most commonly related to minimal benefit (13.2%). Demographics, aetiology, seizure nature and surgical factors did not influence outcomes. CONCLUSION: Over extended treatment periods, a large proportion of patients will benefit significantly from VNS therapy. Approximately 4 of 5 patients will retain VNS therapy, and in cases of cessation, this is most commonly related to minimal benefit. Underlying demographics, aetiology or seizure nature do not influence outcomes. This 20-year Queensland assessment of VNS therapy outcomes informs long-term expectation of VNS therapy.
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Epilepsia , Estimulação do Nervo Vago , Austrália , Criança , Epilepsia/terapia , Humanos , Estudos Retrospectivos , Resultado do Tratamento , Nervo Vago , Estimulação do Nervo Vago/efeitos adversosRESUMO
INTRODUCTION: Intramedullary thoracic dermoid cysts are rare lesions that are associated with dermal sinus tracts (DSTs). Current recommendations advocate for imaging-based screening of suspected DSTs shortly after birth to exclude associated inclusion lesions. CASE PRESENTATION: A 6-year-old male child presented with a 2-week history of progressive ataxia, lower limb weakness, and hyperreflexia. He was suspected to have a thoracic DST at birth, though initial screening ultrasound was negative for an inclusion lesion or intradural tract. On representation, MRI demonstrated a 3.9-cm intramedullary thoracic dermoid cyst causing significant spinal cord compression. Intraoperatively, a DST extending intradurally was found. The associated dermoid cyst was removed via intracapsular resection. CONCLUSIONS: Whilst dermoid cysts are presumed to progressively develop from DSTs, to our knowledge, this is the first case in English literature documenting a thoracic spinal cord intramedullary dermoid cyst following a negative screening ultrasound for a suspected DST. We use this case to highlight the false-negative rates associated with postnatal screening and advocate for early neurosurgical referral of suspected DSTs, regardless of imaging findings.
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Cisto Dermoide , Espinha Bífida Oculta , Neoplasias da Medula Espinal , Criança , Cisto Dermoide/diagnóstico por imagem , Cisto Dermoide/cirurgia , Humanos , Recém-Nascido , Masculino , Espinha Bífida Oculta/diagnóstico por imagem , Espinha Bífida Oculta/cirurgia , Neoplasias da Medula Espinal/diagnóstico por imagem , Neoplasias da Medula Espinal/cirurgia , UltrassonografiaRESUMO
PURPOSE: Substantial evidence exists describing differences between paediatric and adult Chiari 1 malformation (CM1) patients. Differences in clinical presentation between very young (0-6 years old) and older (7-18 years old) paediatric patients is similarly well-established. However, progression on these findings with regard to surgical outcomes is limited. We aimed to establish whether inter-paediatric age group modifies surgical outcome for CM1 decompression. METHODS: Retrospective chart review was conducted for 65 patients receiving posterior fossa decompression between 2006 and 2018. Presenting features, surgical management, and outcome were evaluated and stratified into very young patients (0-6 years) or older patients (7-18 years). Outcomes were assessed using the Chicago Chiari Outcome Scale (CCOS), a validated 16-point framework for comparison. RESULTS: Very young patients (21 patients) scored significantly lower in surgical outcome overall compared with older patients (44 patients) (12.1 ± 3.2/16 vs 14.2 ± 1.6/16, p = 0.011), and across 3/4 CCOS subscores: non-pain symptoms, functionality, and complications. Very young patients also returned to theatre more commonly (47.6% vs 13.6%, p = 0.003), primarily for re-do decompression (7/10 patients, 70%). Finally, the presentation of very young patients differed to older patients with significantly more oropharyngeal (38.1% vs 9.0%, p = 0.014) and motor symptoms (47.6% vs 22.7%, p = 0.042). DISCUSSION: Very young patients (0-6 years) do not appear to respond as well to standard posterior fossa decompression, as their older (7-18 years) paediatric counterparts, in the absence of several baseline cohort characteristic differences. We hypothesise underlying anatomical differences may contribute to this finding.
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Malformação de Arnold-Chiari , Descompressão Cirúrgica , Adolescente , Malformação de Arnold-Chiari/cirurgia , Chicago , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Most commercial swimming pools use pressurised filters, typically containing sand media, to remove suspended solids as part of the water treatment process designed to keep water attractive, clean and safe. The accidental release of faecal material by bathers presents a poorly quantified risk to the safety of swimmers using the pool. The water treatment process usually includes a combination of maintaining a residual concentration of an appropriate biocide in the pool together with filtration to physically remove particles, including microbial pathogens, from the water. However, there is uncertainty about the effectiveness of treatment processes in removing all pathogens, and there has been growing concern about the number of reported outbreaks of the gastrointestinal disease cryptosporidiosis, caused by the chlorine-resistant protozoan parasite Cryptosporidium. A number of interacting issues influence the effectiveness of filtration for the removal of Cryptosporidium oocysts from swimming pools. This review explains the mechanisms by which filters remove particles of different sizes (including oocyst-sized particles, typically 4-6 µm), factors that affect the efficiency of particle removal (such as filtration velocity), current recommended management practices, and identifies further work to support the development of a risk-based management approach for the management of waterborne disease outbreaks from swimming pools.
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Criptosporidiose/epidemiologia , Cryptosporidium/crescimento & desenvolvimento , Piscinas , Microbiologia da Água , Animais , Filtração , OocistosRESUMO
OBJECTIVE: The commensal microbiota, host immunity and metabolism participate in a signalling network, with diet influencing each component of this triad. In addition to diet, many elements of a modern lifestyle influence the gut microbiota but the degree to which exercise affects this population is unclear. Therefore, we explored exercise and diet for their impact on the gut microbiota. DESIGN: Since extremes of exercise often accompany extremes of diet, we addressed the issue by studying professional athletes from an international rugby union squad. Two groups were included to control for physical size, age and gender. Compositional analysis of the microbiota was explored by 16S rRNA amplicon sequencing. Each participant completed a detailed food frequency questionnaire. RESULTS: As expected, athletes and controls differed significantly with respect to plasma creatine kinase (a marker of extreme exercise), and inflammatory and metabolic markers. More importantly, athletes had a higher diversity of gut micro-organisms, representing 22 distinct phyla, which in turn positively correlated with protein consumption and creatine kinase. CONCLUSIONS: The results provide evidence for a beneficial impact of exercise on gut microbiota diversity but also indicate that the relationship is complex and is related to accompanying dietary extremes.
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Dieta/efeitos adversos , Proteínas Alimentares/metabolismo , Exercício Físico/fisiologia , Trato Gastrointestinal/microbiologia , Microbiota/fisiologia , Esportes/fisiologia , Adulto , Biomarcadores/metabolismo , Índice de Massa Corporal , Creatina Quinase/sangue , Análise de Alimentos , Humanos , Imunidade/fisiologia , Inflamação/metabolismo , Masculino , Fenômenos Fisiológicos da Nutrição EsportivaRESUMO
OBJECTIVE: The purpose of this study was to assess the clinical and radiological outcomes of minimally invasive transforaminal lumbar interbody fusion (MI-TLIF) surgery for degenerative lumbar spine disease. METHODS: A prospective analysis of 34 consecutive patients who underwent a MI-TLIF using image guidance between July 2008 and November 2010. The patient group comprised 19 males and 15 females (mean age 56), 23 of whom had undergone additional reduction of spondylolisthesis. All patients underwent post-operative CT imaging to assess pedicle screw, cage placement and fusion at 6 months. Oswestry disability index (ODI) scores were recorded pre-operatively and at 6-month follow up. RESULTS: 33/34 (97.1%) patients showed evidence of fusion at 6 months with a mean improvement of 27 on ODI scores. The mean length of hospital stay was 4 days. The mean operative time was 173 min. COMPLICATIONS OBSERVED: 1/34 (2.9%) suffered a pulmonary embolism and 1/34 (2.9%) patients developed transient nerve root pain post-operatively. There were no occurrences of infection and no post-operative CSF leaks. CONCLUSION: MI-TLIF offers patients a safe and effective surgical treatment option to treat degenerative lumbar spine disease.
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Degeneração do Disco Intervertebral/cirurgia , Deslocamento do Disco Intervertebral/cirurgia , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Fusão Vertebral/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Degeneração do Disco Intervertebral/diagnóstico por imagem , Deslocamento do Disco Intervertebral/diagnóstico por imagem , Vértebras Lombares , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Radiografia , Fusão Vertebral/efeitos adversos , Resultado do Tratamento , Adulto JovemRESUMO
STUDY DESIGN: Prospective observational study. OBJECTIVE: To describe our experience with the first 50 cases of minimally invasive lumbar canal decompression in terms of patient outcome up to 2 years, the learning curve incurred, and complications when compared with our most recent 50 cases. SUMMARY OF BACKGROUND DATA: Lumbar canal stenosis is a common condition in the elderly population, the symptoms of which respond well to surgical decompression. A minimally invasive approach offers potential short and long-term benefits to patients but the technique is associated with a learning curve and equivalence to open surgery regarding efficacy and complications needs to be demonstrated. METHODS: Fifty patients (mean age 70 y) who presented with clinical and radiological features of lumbar canal stenosis and who had failed a period of conservative management underwent lumbar canal decompression through a paramedian oblique, muscle splitting approach using a 16 to 18 mm operating tube and microscope. Outcome was assessed using the Oswestry Disability Index and Short Form-36 at 3 months, 1 year, and 2 years. RESULTS: Significant clinical improvements were seen at 3 months that were sustained at 1 and 2 years. Clinical outcome improved whereas operative time and complications fell as experience increased, helping to define the learning curve with this technique. CONCLUSIONS: Minimally invasive lumbar decompression seems to offer patients a clinical benefit comparable to that observed in published open series, with potential advantages in terms of postoperative pain and recovery. However, there is a learning curve and whether this technique offers long-term benefits with regard to a reduction in back pain or postoperative spondylolisthesis is not yet known.
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Descompressão Cirúrgica/métodos , Curva de Aprendizado , Vértebras Lombares/cirurgia , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Estenose Espinal/epidemiologia , Estenose Espinal/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Descompressão Cirúrgica/tendências , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos/tendências , Morbidade , Estudos Prospectivos , Radiografia , Estenose Espinal/diagnóstico por imagem , Fatores de Tempo , Resultado do TratamentoRESUMO
The use of sport supplements presents a dilemma for many of those involved in supporting athletes, including coaches, families, support staff, and the athletes themselves. Often the information that they source can be incorrect and promote a biased view regarding the use of nutritional supplements. The aim of this case study was to describe the process that occurred around the development of a series of targeted educational fact sheets on a range of nutritional supplements for Irish athletes. It describes the initiation and support of the process by the Irish Sports Council; one of its subgroups, the Food and Food Supplements Committee; and the Irish Institute of Sport. A needs assessment through questionnaires was carried out to establish the most commonly used sport nutrition supplements by athletes age 16 or over in Ireland. Respondents completed 105 questionnaires over a 4-mo period in 2008-09 that led to the production of 20 supplement fact sheets. These supplement fact sheets will enable Irish athletes to access high-quality, up-to-date, scientific information about the supplements they have reported consuming. Since personal reading had a strong influence over athletes' decision-making process for taking nutritional supplements, as did scientific research, fact sheets available on the Internet from a reliable source are an ideal way to educate Irish athletes.
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Acesso à Informação , Tomada de Decisões , Suplementos Nutricionais , Educação em Saúde/métodos , Conhecimentos, Atitudes e Prática em Saúde , Ciências da Nutrição , Esportes , Adolescente , Adulto , Atletas/educação , Feminino , Humanos , Internet , Irlanda , Masculino , Inquéritos e Questionários , Adulto JovemRESUMO
The use of sports supplements presents a dilemma for many of those involved in supporting athletes, including coaches, families, support staff and the athletes themselves. Often the information that they source can be incorrect and promote a bias view regarding the use of nutritional supplements. The aim of this case study was to describe the process that occurred around the development of a series of targeted educational factsheets on a range of nutritional supplements for Irish athletes. It describes the initiation and support of the process by the Irish Sports Council, one of its subgroups, The Food and Food Supplements Committee, and the Irish Institute of Sport. A needs assessment through questionnaires was carried out to establish the most commonly used sports nutrition supplements by athletes, aged sixteen or over in Ireland. One hundred and five questionnaires were completed over a 4-month period in 2008-2009 that lead to the production of 20 supplement fact sheets. These supplement fact sheets will enable Irish athletes to access high quality, up to date, scientific information regarding the supplements they have reported consuming. Since personal reading had a strong influence over the athlete's decision-making process for taking nutritional supplements, as did scientific research, fact sheets available on the internet from a reliable source is an ideal way to educate Irish athletes.
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Dendritic spikes function as cardinal components of rodent neocortical circuit computations. Recently, the biophysical properties of human pyramidal neurons (PNs) have been reported to be divergent, raising the question of whether dendritic spikes have homologous roles in the human neocortex. To directly address this, we made electrical recordings from the soma and apical dendrites of human and rat layer 2/3 PNs of the temporal cortex. In both species, dendritic excitatory input led to the initiation of sodium-channel-mediated dendritic spikes. Dendritic sodium spikes could be generated across a wide input range, exhibited a similar frequency range of activation, and forward-propagated with high-fidelity to implement stereotyped computations in human and rat PNs. However, the physical expansion and complexification of the apical dendritic trees of human PNs allowed the enriched expression of dendritic spike generation. The computational capacity of human PNs is therefore enhanced by the widespread implementation of a conserved dendritic integration mechanism.
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Neocórtex , Humanos , Ratos , Animais , Neocórtex/fisiologia , Técnicas de Patch-Clamp , Potenciais de Ação/fisiologia , Ratos Wistar , Células Piramidais/fisiologia , Dendritos/fisiologia , SódioRESUMO
STUDY DESIGN: A comparison of 2 surgical techniques. OBJECTIVE: To determine the relative accuracy of minimally invasive lumbar pedicle screw placement using 2 different CT-based image-guided techniques. SUMMARY OF BACKGROUND: Three-dimensional intraoperative fluoroscopy systems have recently become available that provide the ability to use CT-quality images for navigation during image-guided minimally invasive spinal surgery. However, the cost of this equipment may negate any potential benefit in navigational accuracy. We therefore assess the accuracy of pedicle screw placement using an intraoperative 3-dimensional fluoroscope for guidance compared with a technique using preoperative CT images merged to intraoperative 2-dimensional fluoroscopy. METHODS: Sixty-seven patients undergoing minimally invasive placement of lumbar pedicle screws (296 screws) using a navigated, image-guided technique were studied and the accuracy of pedicle screw placement assessed. Electromyography (EMG) monitoring of lumbar nerve roots was used in all. Group 1: 24 patients in whom a preoperative CT scan was merged with intraoperative 2-dimensional fluoroscopy images on the image-guidance system. Group 2: 43 patients using intraoperative 3-dimensional fluoroscopy images as the source for the image guidance system. The frequencies of pedicle breach and EMG warnings (indicating potentially unsafe screw placement) in each group were recorded. RESULTS: The rate of pedicle screw misplacement was 6.4% in group 1 vs 1.6% in group 2 (P=0.03). There were no cases of neurologic injury from suboptimal placement of screws. Additionally, the incidence of EMG warnings was significantly lower in group 2 (3.7% vs. 10% (P=0.03). CONCLUSIONS: The use of an intraoperative 3-dimensional fluoroscopy system with an image-guidance system results in greater accuracy of pedicle screw placement than the use of preoperative CT scans, although potentially dangerous placement of pedicle screws can be prevented by the use of EMG monitoring of lumbar nerve roots.
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Vértebras Lombares/cirurgia , Fusão Vertebral/métodos , Cirurgia Assistida por Computador/métodos , Adulto , Idoso , Parafusos Ósseos , Eletromiografia , Feminino , Fluoroscopia/instrumentação , Fluoroscopia/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Fusão Vertebral/instrumentação , Cirurgia Assistida por Computador/instrumentação , Tomografia Computadorizada por Raios X/instrumentação , Tomografia Computadorizada por Raios X/métodos , Resultado do TratamentoRESUMO
PURPOSE: This study examined the body composition, nutritional knowledge, behaviors, attitudes, and educational needs of senior schoolboy rugby players in Ireland. METHODS: Participants included 203 male rugby players age 15-18 yr competing at Senior School's Cup level in Leinster, Ireland. Estimation of body composition included measurement of height, weight, and percentage body fat (PBF; using bioelectrical impedance analysis, Tanita BC-418). Nutritional knowledge, behaviors, attitudes, and education needs were assessed by questionnaire. RESULTS: The range of PBF was 5.1-25.3%. Sixty-eight percent of the players in this study had a healthy PBF (10-20%), 32 (22%) were classified as underweight (<10% body fat), and 9.7% (n = 14) were overweight. Assessment of nutritional knowledge demonstrated poor knowledge of the foods required for refueling, appropriate use of sports drinks, and the role of protein in muscle formation. Alcohol consumption and dietary supplement use were reported by 87.7% and 64.5%, respectively. A perception that greater body size enhances sport performance did not predict dietary supplement use. Nutritional advice had been previously sought by 121 players from coaches (66.9%), magazines (42.1%), Web sites (38.8%), peers (35.5%), family (28.1%), sport organizations (16.5%), and health professionals (8.2%). Nutritional knowledge was no better in these players, nor did better nutritional knowledge correlate with positive dietary behaviors or attitudes. CONCLUSIONS: Most players had a healthy PBF. Despite a positive attitude toward nutrition, poor nutritional knowledge and dietary practices were observed in many players. Young athletes' nutritional knowledge and dietary practices may benefit from appropriate nutritional education.
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Composição Corporal , Peso Corporal , Dieta , Futebol Americano , Conhecimentos, Atitudes e Prática em Saúde , Tecido Adiposo , Adolescente , Comportamento do Adolescente , Consumo de Bebidas Alcoólicas , Desempenho Atlético , Aconselhamento , Suplementos Nutricionais/estatística & dados numéricos , Comportamento Alimentar , Comportamentos Relacionados com a Saúde , Educação em Saúde , Humanos , Comportamento de Busca de Informação , Irlanda/epidemiologia , Inquéritos e QuestionáriosRESUMO
Brain somatic mutations are an increasingly recognized cause of epilepsy, brain malformations and autism spectrum disorders and may be a hidden cause of other neurodevelopmental and neurodegenerative disorders. At present, brain mosaicism can be detected only in the rare situations of autopsy or brain biopsy. Liquid biopsy using cell-free DNA derived from cerebrospinal fluid has detected somatic mutations in malignant brain tumours. Here, we asked if cerebrospinal fluid liquid biopsy can be used to detect somatic mosaicism in non-malignant brain diseases. First, we reliably quantified cerebrospinal fluid cell-free DNA in 28 patients with focal epilepsy and 28 controls using droplet digital PCR. Then, in three patients we identified somatic mutations in cerebrospinal fluid: in one patient with subcortical band heterotopia the LIS1 p. Lys64* variant at 9.4% frequency; in a second patient with focal cortical dysplasia the TSC1 p. Phe581His*6 variant at 7.8% frequency; and in a third patient with ganglioglioma the BRAF p. Val600Glu variant at 3.2% frequency. To determine if cerebrospinal fluid cell-free DNA was brain-derived, whole-genome bisulphite sequencing was performed and brain-specific DNA methylation patterns were found to be significantly enriched (P = 0.03). Our proof of principle study shows that cerebrospinal fluid liquid biopsy is valuable in investigating mosaic neurological disorders where brain tissue is unavailable.
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PURPOSE: To assess the outcomes from temporal lobectomy for hippocampal sclerosis in patients 50 years or older. Controversy exists as to the suitability of older patients for epilepsy surgery, with most of the previous studies demonstrating a correlation between increasing age and poor outcome. However, the inclusion of temporal lobe epilepsy of multiple etiologies has confounded many previous studies of this age group. METHODS: Twenty-one patients aged 50 years or older (mean 54.9 years) at the time of surgery were included in the study group. All patients had a pathologic diagnosis of hippocampal sclerosis. A retrospective analysis was performed comparing seizure outcomes following a standardized anterior temporal lobectomy with those from 103 patients younger than 50 (mean age 34.7 years) operated upon over the same time period. The mean follow-up period for the study was 9.57 years. RESULTS: Twenty of the 21 patients in the older group (95.2%) had a satisfactory seizure outcome (Engel classes I and II) compared with 90.3% of the younger patients. There was no statistically significant difference in the outcomes between the two groups (p = 0.719). Across both groups of patients combined, there was no significant difference between the mean age in the patients with a satisfactory seizure outcome compared to those with an unsatisfactory outcome (38.3 vs. 34.7 years, p = 0.213). DISCUSSION: Patients 50 years or older with intractable seizures from hippocampal sclerosis have seizure outcomes following temporal lobectomy that are comparable to young patients over the long term. Older patients should not be denied treatment on the basis of age.
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Epilepsia do Lobo Temporal/patologia , Epilepsia do Lobo Temporal/cirurgia , Hipocampo/patologia , Hipocampo/cirurgia , Adulto , Fatores Etários , Idoso , Lobectomia Temporal Anterior/tendências , Epilepsia do Lobo Temporal/etiologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Esclerose/complicações , Esclerose/patologia , Fatores de Tempo , Resultado do TratamentoRESUMO
OBJECTIVES: Frameless imaged-guided neuronavigation is a useful adjunct to neuroendoscopy in paediatric patients, especially those with abnormal or complex ventricular or cyst anatomy. The development of electromagnetic neuronavigation has allowed the use of image-guided navigation in the very young patient in whom rigid fixation in cranial pins is contraindicated. The technique and the authors' experience of its use in a series of paediatric patients are described. MATERIALS AND METHODS: Nineteen paediatric patients were treated with endoscopic surgery at two paediatric neurosurgery centres over a period of 18 months. A total of 29 endoscopic procedures were performed. The cases were reviewed and surgical outcomes assessed. In all of the cases, the goal of surgery was realised successfully at the time of surgery, as confirmed by post-operative imaging. No technical failures were encountered. None of the patients suffered worsened neurological function as a result of their procedures. CONCLUSION: Pinless, frameless electromagnetic neuronavigation was found to be a safe technique that can supplement endoscopic surgery in the very young patient. It allows the use of direct navigation of the endoscope in patients that are unable safely to undergo rigid cranial fixation in pins due to young age or thin skull vaults. This has proven to be a useful adjunct to neuroendoscopy in the subset of infants who have complicated or distorted ventricular anatomy and can improve the safety and accuracy of this type of surgery. It is also an alternative to optical neuronavigation in conjunction with neuroendoscopy in patients of any age.
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Endoscopia/métodos , Neuroendoscópios , Neuroendoscopia/métodos , Procedimentos Neurocirúrgicos/instrumentação , Procedimentos Neurocirúrgicos/métodos , Cirurgia Assistida por Computador , Adolescente , Neoplasias Encefálicas/cirurgia , Cistos do Sistema Nervoso Central/patologia , Cistos do Sistema Nervoso Central/cirurgia , Hemorragia Cerebral/etiologia , Hemorragia Cerebral/patologia , Hemorragia Cerebral/cirurgia , Paralisia Cerebral/etiologia , Ventrículos Cerebrais/patologia , Ventrículos Cerebrais/cirurgia , Criança , Pré-Escolar , Cistos/cirurgia , Feminino , Humanos , Hidrocefalia/cirurgia , Lactente , Masculino , Dispositivos de Fixação Cirúrgica , Derivação VentriculoperitonealRESUMO
BACKGROUND: Fourth ventricular tumors are amongst the most common tumors in the pediatric population. Traditionally, these tumors are approached through the cerebellar vermis, but the telovelar approach is now becoming widespread. Posterior fossa syndrome/cerebellar mutism is a complication of surgery for fourth ventricular tumors whose precise cause remains elusive, but may be related to the surgical approach or injury to adjacent cerebellar structures. We present a small series of fourth ventricular tumors and our initial experience in using the telovelar approach for this surgery. METHODS: Twenty patients with fourth ventricular tumors were operated on using the microsurgical telovelar approach, sparing the cerebellar vermis. Data were collected prospectively for all patients with respect to the degree of resection achieved, complications and the incidence of posterior fossa syndrome. RESULTS: A complete resection was achieved on postoperative MRI in 70% of the patients. Residual disease <1.5 cm(3) remained in 15% and a further 15% had subtotal resection with >1.5 cm(3) of residual disease. Thirty percent had evidence of posterior fossa syndrome in the postoperative period, of which 84% had resolved at the last follow-up. Thirty percent of the patients developed symptomatic hydrocephalus requiring shunting. There were no new neurological deficits and no procedure-related deaths. CONCLUSION: The telovelar approach provides excellent access to tumors of the fourth ventricle with sparing of the vermis in children. The high incidence of cerebellar mutism in our patients confirms that this phenomenon is unlikely to be related to vermian injury and further study is recommended.
Assuntos
Neoplasias do Ventrículo Cerebral/cirurgia , Quarto Ventrículo/cirurgia , Procedimentos Neurocirúrgicos/métodos , Adolescente , Cerebelo/diagnóstico por imagem , Cerebelo/cirurgia , Neoplasias do Ventrículo Cerebral/diagnóstico por imagem , Criança , Pré-Escolar , Feminino , Quarto Ventrículo/diagnóstico por imagem , Humanos , Lactente , Masculino , Mutismo/diagnóstico por imagem , Mutismo/etiologia , Mutismo/prevenção & controle , Procedimentos Neurocirúrgicos/efeitos adversos , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Estudos Prospectivos , RadiografiaRESUMO
A diagnosis of 'cerebral palsy' in childhood is relatively common. Abnormalities of the upper cervical spine causing spinal cord compression are rare, but can be a cause of symptoms and signs that may otherwise be attributed to brain injury acquired during development. We present an interesting case of a congenital abnormality of the atlas causing severe cervical spinal cord compression in a 9-year-old child, together with a discussion of the relevant aspects of spinal development and a review of the literature.