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BACKGROUND: This study aims to explore the ease of adopting clinical practice guidelines (CPGs) in managing traumatic spinal cord injury (TSCI) among spine surgeons, with particular focus on the use of steroids, high-dependency unit, early spinal cord decompression, and maintaining a target mean arterial blood pressure (MAP). METHODS: We conducted a cross-sectional study among the practicing spinal surgeons in Saudi Arabia and included surgeons from neurosurgical and orthopedic backgrounds. The study period was from April to June 2020. The respondents provided sociodemographic data, training background, years of experience, and their clinical practices in managing TSCI via a survey tool constructed based on a literature review. The data were analyzed to evaluate the association between a surgeon's demographics and clinical practices. RESULTS: Ninety-eight spinal surgeons responded, comprising 40% of the practicing spine surgeon population in Saudi Arabia. The only area where the neurosurgical spine and orthopedic spine surgeons' practices differed significantly was maintaining MAP within a target range. Other differences between practices were not statistically significant. The authors also found a significant correlation between the surgeon's school of training and their experience concerning steroids administration. On the other hand, the surgeon experience and volume of treated TSCI cases correlated significantly with admission to a high-dependency unit. CONCLUSIONS: The adoption of CPGs remains a challenge to many spinal surgeons. Neurosurgeons are more into keeping the MAP at certain target, whereas the school of training and surgeon experience were the largest determinants of the surgeon's practice in managing TSCI in Saudi Arabia. CLINICAL RELEVANCE: As the variability in managment among spine surgeons remains a challenge, international and national spine societies are expected to build clinical practice guidelines from the limited existing literature.
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Ventriculoperitoneal shunt (VPS)-related abdominal pseudocyst (APC) is a rare cause of shunt malfunction. Variable VPS function due to APC has not been described before. A 21-year-old male with hydrocephalus and bilateral VPS presented with a right-sided shunt malfunction. After a routine abdominal ultrasound (US), that proved to be unremarkable, the patient had a clinical and radiological improvement followed by a relapse. An abdominal computed tomography scan subsequently showed an APC around the peritoneal catheter tip. Laparoscopic intervention on the APC cured the shunt malfunction. We believe that the APC emptied during the compression involved while performing the abdominal US. The pseudocyst collapse led to missing it on the abdominal US and explains the short-lived clinical and radiological improvement. We introduce the concept of APC-related variable VPS function, discuss the possible mechanisms by which the pseudocyst deflated, and make suggestions toward this diagnostic problem. Key Messages: A collapsible abdominal pseudocyst could result in a variable ventriculoperitoneal shunt function. Starting the abdominal ultrasound examination over the location of the peritoneal catheter tip may overcome the collapse. Contrasted computed tomography is superior to ultrasound in diagnosing the pseudocyst.
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Aim: To determine the pattern and in-hospital mortality of thoracoabdominal injuries associated with head injuries (HI) due to motor vehicle accidents. Settings and Design. A single-center retrospective study in a tertiary care hospital, level 1 trauma center in the southern region of Saudi Arabia. Methods and Materials: Descriptive analysis was conducted to evaluate sex, age, types of head injury, associated thoracoabdominal injuries, particular admission day, duration of hospital stay, and discharge category, and associations between different variables and outcomes were analyzed. Results: The cohort had a mean age of 26.9 ± 15.8 years, with a predominance of men (86.9%). Thoracoabdominal injuries were present in 6.8% of MVA-related HI, and 14.3% of victims expired during their hospital stay, mostly within the first 10 days. All expired patients had posttraumatic brain lesions. Moreover, there was a significant association between intensive care unit (ICU) admission and poor prognosis. Conclusions: Existence of posttraumatic brain lesions and requirement of ICU admission are significant variables affecting outcomes in patients with motor vehicle-associated HI with concomitant thoracoabdominal trauma in this study. Patients who survived the first 10 days after trauma seemed to have a better prognosis. More efforts are needed to reduce the health burden of this lethal injury.
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Objectives: This study aimed to provide information on the epidemiology, trend, associated traumatic spinal cord injury (TSCI) and non-spinal injuries, and risk factors affecting the in-hospital outcome of RTA-related traumatic spinal injury (TSI) over the past decade in Aseer province, Saudi Arabia. Methods: In this retrospective study, we included all RTA-related traumatic injuries (5797) admitted to ACH from 1st January 2010 to 31 December 2019, from which 810 cases were TSIs. The cases were identified through the hospital database registry.. Descriptive analysis was performed for gender, age, level of spinal injury, admission day, type of care unit, associated injuries, presence of TSCI and discharge category. Results: TSIs accounted for 13.97% of RTA-related injuries with a predominantly male population. The patients had a mean age of 30.7 years, 46.67 % of victims were between 19 to 30-years old. There was a significant decrease in the number of RTA-related TSIs over the study period. Lumbar and cervical injuries were more prevalent (32.47 and 31.36 %, respectively). Most (73.58 %) TSIs occurred during working days, and 6.54% required critical care admission. Associated non-spinal injuries occurred in 50.25% and TSCI in 6.91% of patients. The in-hospital mortality was 5.18%. The Age, level of spine injury, need for critical care, associated injuries, and TSCI significantly affected the likelihood of improvement. Conclusion: The latest government initiatives to reduce RTA like speed limits and waring of seat belts have resulted in a concordant decline in TSI incidence with good consistency between police and health registration data.
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Cerebral myiasis is extremely rare, and surgical intervention is the primary treatment used. Successful conservative management alone, without surgical removal of the brain infestation has not yet been published. We report a case of a 24-year-old African homeless man who was found on the street in a state of decreased level of consciousness, with larvae exiting from the left supra and postauricular dirty wounds and from his left ear. The patient was diagnosed with post-traumatic cerebral myiasis of the left temporal lobe and cerebellum. It was treated successfully by debridement of the external wounds and administration of antibiotics, without surgical removal of the brain infestations. For the first time, this case illustrates the novelty and appropriateness of the conservative management of cerebral myiasis. This is also the first report of cerebral myiasis with cerebellar involvement and the second report of post-traumatic cerebral myiasis in literature.
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Tratamiento Conservador , Miasis , Adulto , Animales , Encéfalo , Oído , Humanos , Larva , Masculino , Miasis/diagnóstico , Miasis/terapia , Adulto JovenRESUMEN
BACKGROUND: Motor vehicle accident (MVA) is a global health hazard that results in spinal, thoracic, and abdominal injuries. Detailed studies on the association between MVA-related traumatic spinal injury (TSI) and thoracoabdominal injuries are lacking. This study aims to elucidate the prevalence, pattern of association between these injuries, and related outcomes in terms of in-hospital mortality. METHODS: This is a retrospective single-center study of MVA-related TSI with thoracoabdominal associated injuries. Descriptive analysis was performed for gender, age, spinal injury level, thoracoabdominal injury region, admission day, hospital stay duration, and discharge category. The association between TSI and thoracoabdominal injury was analyzed, and the chi-square test was used to test the significance of differences. A statistically significant difference was considered at P values less than 0.05. RESULTS: The cohort had a mean age of 33.6 ± 17.7 years with predominantly more males (85.1%). Thoracoabdominal injuries were present in 10.5% of MVA-related TSIs, and 9.2% of victims died during their hospital stay. There is a significant (P=0.045) association between the level of the spinal and the region of thoracoabdominal injuries. The presence of TSI-associated thoracic injury significantly (P=0.041) correlated with increased in-hospital mortality more than abdominal injury. CONCLUSION: Thoracoabdominal injuries concomitant with MVA-related TSI cause considerable mortality. A pattern of association exists between the level of spinal and region of thoracoabdominal injury. Knowledge of this pattern is helpful in the routine practice of trauma health partitioners.
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Traumatismos Vertebrales , Accidentes de Tránsito , Adolescente , Adulto , Mortalidad Hospitalaria , Humanos , Masculino , Persona de Mediana Edad , Vehículos a Motor , Estudios Retrospectivos , Traumatismos Vertebrales/epidemiología , Traumatismos Vertebrales/etiología , Adulto JovenRESUMEN
BACKGROUND: Traumatic head injury (THI) due to road traffic accidents (RTAs) is a global health problem. Studies exploring the association between RTA-related THI and concurrent orthopedic fractures are lacking. We aim to provide a detailed analysis of this association and its impact on inhospital outcomes. METHODS: Retrospective analysis of RTA-related THI associated with orthopedic fractures admitted to a large tertiary center, Southwest, Saudi Arabia, over ten years. Descriptive statistics for participant demographics and clinical outcomes were represented by percentages. The associations between head injury diagnosis or orthopedic fractures region and patient demographics are analyzed using the Chi-square test. Post hoc analysis for the significant Chi-square values was carried out by calculating the significant adjusted residuals. Adjust p value was obtained by using the Benjamini-Hochberg procedure to control for multiplicity testing. A p value less than 0.05 was considered statistically significant. RESULTS: Concurrent orthopedic fractures are present in one-tenth of RTA-related THI. The cohort was dominated by young males, with 46.5% of the population between 18 and 29 years old. There was a significant association between the head injury diagnosis and the region of orthopedic fracture (p = 0.028). The type of head injury had significant associations with mortality and duration of hospital stay (p = 0.039 and p = 0.037, respectively). The region of orthopedic fracture significantly (p = 0.018) affected the duration of hospital stay, with fractures in the clavicle/shoulder region significantly (p = 0.035) having a short course of hospital admission. CONCLUSION: Orthopedic fractures concomitant with RTA-related THI are common. The associations between the two injuries tend to happen in specific patterns. The inhospital stay duration and mortality significantly correlated with the site of the head or orthopedic injury. Knowledge of these patterns improves the care of THI victims, triaging, and resource allocations.
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Pregabalin is a first-line therapy for neuropathic pain and for chronic pain. It has abuse potential. This study was conducted to assess community pharmacists' perceptions towards pregabalin abuse and misuse in the Aseer region, Saudi Arabia, and identify predictors and associated factors. A cross-sectional survey using a structured questionnaire following a self-administrative study was conducted across community pharmacies in the Aseer region (Abha, Khamis Mushait, Mahayel, Sarat Abeeda, Ahad-Rufaida, and Bishah). A total of 206 respondents from community pharmacists participated in the study. Over the last six months, 136 respondents (66.0%) suspected pregabalin abuse in community pharmacies; male dominance in pregabalin abusers was also recorded (n = 165, 80.1%). Additionally, 40 (19.4%) respondents stated that a prescription was not issued for pregabalin demands. Over half (61.7%) of community pharmacists recorded an increased change in pregabalin abuse compared to the previous year. This is the first study to explore pharmacists' perceptions in the community of the Aseer region towards customers' misuse and abuse of pregabalin. Further monitoring and regulations on the prescribing and procurement of pregabalin are needed to avoid abuse.
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Intractable epilepsy, also known as drug resistance or refractory epilepsy, is a major problem affecting nearly one-third of epilepsy patients. Surgical intervention could be an option to treat these patients. Correct identification and localization of epileptogenic foci is a crucial preoperative step. Some of these patients, however, have no abnormality on routine magnetic resonance imaging (MRI) of the brain. Advanced imaging techniques, therefore, can be helpful to identify the area of concern. Moreover, a clear delineation of certain anatomical brain structures and their relation to the surgical lesion or the surgical approach is essential to avoid postoperative complications, and advanced imaging techniques can be very helpful. In this review, we discuss and highlight the use of advanced imaging techniques, particularly positron emission tomography (PET)-MRI, single-photon emission computed tomography, functional MRI, and diffusion tensor imaging-tractography for the preoperative assessment of epileptic patients.
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BACKGROUND: Although the relationship between acromegaly and depression has been ascribed to the effects of chronic disease, the role of growth hormone (GH), and insulin like growth factor-1 (IGF-1) is not clear. OBJECTIVE: To determine whether related hormones levels in acromegalics are correlated with depressive symptoms and whether these symptoms are ameliorated following surgery. MATERIALS AND METHODS: A prospective cohort study was conducted on patients diagnosed with acromegaly (n = 15) or non-functioning pituitary adenomas (NFPA; n = 20, as controls) and undergoing first-time surgery, who completed the Center for Epidemiological Studies Depression (CES-D) questionnaire both pre-surgery and post-surgery. The primary outcome was the patient's severity of depression symptomatology using the CES-D score; GH, IGF-1 levels, and tumor characteristics were also measured. RESULTS: Hormone levels (GH and IGF-1) and depression scores in acromegaly patients showed significant reductions following surgery (p < 0.05). The average change in CES-D score was 5.73 ± 2.58 (mean ± SE). A moderate correlation was found between GH levels and CES-D scores (r = 0.52, p < 0.01). The depressed affect subscale accounted for the most improvement in CES-D scores postoperatively and correlated most highly with GH levels. We did not find similar declines in the matched cohort of NFPA patients. CONCLUSION AND RELEVANCE: Surgical resection of the pituitary tumor in acromegaly patients leads to reduction in GH levels that is correlated with reduction in CES-D scores. The results suggest a role for GH in depression and provide a stronger foundation on which to build the hypothesis that GH impacts affect. The study also suggests that hormones should be factored into the matrix that entails the neuro-biological underpinnings of depressive disorders. Future work could explore the mechanisms involved, further brain and neuropeptide interactions, and, novel potential therapeutic targets in depressive and other mental health disorders.
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In most of the world, wheat is one of the main staple foods, and is also widely used in livestock feed. In the current study, we investigated the effects of wheat grain consumption on the rat behavior and neurogenesis markers. Thirty male rats were divided into three equal groups (n = 10). Group 1 was the control group fed with chow diet (Carbohydrates 63%, fat 13% and protein 24%), the Group 2 rats were fed with whole grains and the Group 3 rats were fed with refined grains. After 12 weeks, we measured the hippocampal and prefrontal cortical brain derived neurotrophic factor (BDNF), neurotrophin-3 (NT-3), 5-hydroxytryptamine, dopamine, norepinephrine, malondialdehyde (MDA) and reduced glutathione (GSH) levels. Also, we evaluated the rat behavior by forced swimming test (FST) and elevated plus maze (EPM) test. Additionally, we measured serum level of glucose, lipid profile, insulin and cortisol. Weight gain at the end of the study was measured in each group. The rats on a diet of whole and refined grains had low BDNF, NT-3, norepinephrine, dopamine and serotonin significantly (p < .01) in both the hippocampus and prefrontal cortex as compared to control rats. Moreover, the MDA increased significantly with significant reduction in GSH versus the control rats. Moreover, in response to grain consumption, the performance in FST showed a significant (p < .01) shortage in the latency of the attempts to escape as well as a significant prolongation (p < .01) in behavioral immobility as compared to control rats with significant (p < .05) prolongation in time spent in closed arm in EPM. An exclusive diet of either whole or refined grain in a rat model induced anxiety and depressive behaviors and negatively affected the BDNF and NT-3 and modulated the level of the neurotransmitters with significant shift in their behavior. PRACTICAL APPLICATIONS: Grains are considered the major caloric source all over the world that may predispose to the development of chronic diseases. In this research, we evaluated the role of grains in modulating the rate of production of neurogenic factors in rats.
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Road traffic accidents (RTAs) are a leading cause of traumatic head injury (THI) and are regarded as a public health problem in Saudi Arabia. This hospital-based retrospective study aims to provide data on the frequency, type, and distribution of RTA-related THIs over the past decade; demonstrate their time trend and seasonality; and decipher age and sex differences in RTA-related THIs and their outcome. The results showed a decline in the number of RTA-related THIs between 2010 and 2019. The patients had a mean age of 26.16 ± 16.27 years, and the male-to-female ratio was 10.8:1. Head injury with multiple lesions was the most common diagnosis, followed by cerebral contusion and skull fracture (32.1%, 12.9%, and 11.2%, respectively). Subdural hematoma (SDH) and skull fracture were significantly more common in patients aged ≥60 years (standard residual > 1.96), and significantly less common in those aged ≤17 years (standard residual < 1.96), compared to other age groups. Males experienced significantly more SDHs than females (standard residual = -2.8, p = 0.029). The length of hospital stay was positively correlated with age (Spearman's rho = 0.057, p = 0.046). No seasonal variation was found.
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Accidentes de Tránsito , Traumatismos Craneocerebrales , Adolescente , Adulto , Niño , Traumatismos Craneocerebrales/epidemiología , Femenino , Humanos , Masculino , Estudios Retrospectivos , Arabia Saudita/epidemiología , Estaciones del Año , Adulto JovenRESUMEN
Retroperitoneal schwannomas are rare, and giant lesions associated with osteolysis are unique clinical entities for which management guidelines are lacking. Herein, we present our experience with treating a large paraspinal retroperitoneal schwannoma, compare it with previously reported cases, highlight the challenges faced with its management, and propose a treatment plan. A 56-year-old female patient presented with back and left leg radicular pains. Contrast-enhanced CT and MRI scanning and histological analysis confirmed the presence of a giant retroperitoneal schwannoma causing near-complete destruction of the fourth lumbar vertebral body and spinal canal invasion. The tumor was totally removed by a two-step operation with no adverse consequences. The patient recovered well and remained in good clinical and radiological status 9 months post-surgery. Therefore, retroperitoneal schwannomas causing bone destruction and spinal canal invasion are best treated through a combined posterior-anterior approach.
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Neurilemoma , Neoplasias de la Columna Vertebral , Femenino , Humanos , Vértebras Lumbares/diagnóstico por imagen , Vértebras Lumbares/cirugía , Persona de Mediana Edad , Neurilemoma/complicaciones , Neurilemoma/diagnóstico por imagen , Neurilemoma/cirugía , Canal Medular , Neoplasias de la Columna Vertebral/complicaciones , Neoplasias de la Columna Vertebral/diagnóstico por imagen , Neoplasias de la Columna Vertebral/cirugía , Cuerpo VertebralRESUMEN
INTRODUCTION: After the official announcement of the coronavirus disease-19 pandemic on March 11, 2020, the disease impacted most aspects of health care delivery, especially postgraduate education and training. METHOD: A cross-sectional, online questionnaire-based assessment was performed. The study participants involved neurosurgery residents and program directors (PDs) across the country between May 16 and May 27, 2020. RESULTS: Approximately 74 of 95 (77.9%) of the residents experienced an impact on their training calendar. Before the pandemic, 51 residents (53.3%) were involved in 2-3 surgeries per week, but during the pandemic, 66 (69.5%) were attending 0-1 case per week. Fifty-three residents (55.8%) agreed that academic sessions were affected despite the helpful effort of online teaching sessions. Thirty-four (35.8%) residents graded their anxiety during coronavirus disease-19 times as high. Ten PDs (58.8%) confirmed spending 3-5 hours per week on educational activities normally, whereas during the pandemic, 15 PDs (88.2%) reduced their educational hours to 0-2 hours per week. CONCLUSION: Our study showed that educational activities significantly decreased and shifted toward virtual teaching methods. Operative volume showed a substantial reduction for both junior and senior residents. Academic and clinical teaching was the main concern for PDs, and they faced challenges interviewing newly matched residents.
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COVID-19 , Internado y Residencia/estadística & datos numéricos , Neurocirugia/educación , Pandemias , Adulto , Ansiedad/epidemiología , Ansiedad/psicología , Estudios Transversales , Femenino , Humanos , Masculino , Procedimientos Neuroquirúrgicos/estadística & datos numéricos , Arabia Saudita , Encuestas y Cuestionarios , Adulto JovenRESUMEN
Metabolic Syndrome (MetS) is considered a common disorder, especially with a sedentary lifestyle and unhealthy food consumption. Cognitive impairment is one of the MetS consequences that worsens the quality of life of the patients. The study aimed to assess the therapeutic effect of the neurosteroid Allopregnalonone on spatial memory and, therefore, the expression of two synaptic plasticity markers in the hippocampus. Thirty-two male rats were divided into four groups: control groups, MetS, and MetS + Allopregnalone. Spatial memory has been evaluated by the Y-maze task and blood pressure measured by the rat tail method. Biochemical evaluation of serum glucose, insulin, lipid profile, and hippocampal expression of Synaptophysin and Associated Protein 43 (GAP-43) were performed for assessing Allopregnanolone on serum and hippocampal markers. Allopregnanolone therapy improved working spatial memory, hypertension, and biochemical markers measured in the serum and hippocampus.
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BACKGROUND: After acute ischemic stroke, a higher level of troponin has been considered as an important biomarker for predicting mortality. AIM AND OBJECTIVES: The study aimed to quantitatively assess the prognostic significance of the effect of baseline troponin levels on all-cause mortality in patients with acute ischemic stroke using a meta-analysis approach. MATERIALS AND METHODS: The following electronic databases such as PubMed, Web of Science, Cochrane Central Register of Controlled Trials, TRIP Database, and ClinicalTrialsgov were used for obtaining the relevant articles from literature. Data were extracted in standardized data collection form by two independent investigators. Any disagreements were resolved by consensus. All the statistical analyses were performed in STATA software (Version 13.1). RESULTS: A total of 19 studies were included in the present meta-analysis involving a total of 10,519 patients. The pooled analysis suggested that elevated serum troponin level was associated with inhospital mortality (rate ratios [RR] 2.34, 95% confidence interval [CI] 1.30-3.38) and at the end of last follow-up mortality (RR 2.01; 95% CI 1.62-2.40). Sensitivity analysis by removing a single study by turns indicated that there was no obvious impact of any individual study on the pooled risk estimate. No significant publication bias was observed in the beg test (P = 0.39); however, significant publication bias was observed in the egger test (P = 0.046). CONCLUSION: Our findings indicated that a higher level of troponin might be an important prognostic biomarker for all cause in hospital and follow-up mortalities in patients with acute ischemic stroke. These study findings offer insight into further investigation in prospective studies to validate this particular association. The study was registered in OSF registries DOI's 10.17605/OSF. IO/D95GN.
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Stroke has emerged as the second most common cause of mortality worldwide and is a major public health problem. It is a multi-factorial disease and genetics plays an important role in its pathophysiology, however, mechanisms of genome involvement in the disease remain unclear. Both genetic and epigenetic mechanisms could play a role in the development of stroke disease. Although epigenetic characteristics may also be heritable, they can be modified during the lifetime under different environmental exposure in response to lifestyle. Recent studies provide clear evidence that epigenetic factors play an important role in the pathological mechanisms leading to an elevated risk of cardiovascular diseases and stroke. Epigenetic changes are reversible therefore; studying epigenetic factors may serve as a marker for disease progression, biomarker for disease diagnosis, and development of novel targets for therapeutic intervention. Identifying the factors which predispose the risk of stroke provides information for the mechanism of stroke and the design of new drug targets where epigenetic modifications play a significant role. Epigenetic modifications play an essential role in a large variety of multifactorial diseases. This review will focus on the evidence that epigenetic mechanisms play a crucial role in the pathophysiology of ischemic stroke.
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Ensamble y Desensamble de Cromatina , Metilación de ADN , Epigénesis Genética , Epigenoma , Accidente Cerebrovascular Isquémico/genética , ARN no Traducido/genética , Adulto , Anciano , Animales , Femenino , Interacción Gen-Ambiente , Humanos , Accidente Cerebrovascular Isquémico/epidemiología , Accidente Cerebrovascular Isquémico/fisiopatología , Accidente Cerebrovascular Isquémico/terapia , Masculino , Persona de Mediana Edad , Pronóstico , Medición de Riesgo , Factores de RiesgoRESUMEN
OBJECTIVE: No previous large population-based studies of traumatic spinal injury (TSI) rates, trends, and patterns exist. We aimed to fill this knowledge gap on TSI epidemiology using a population-based study of 13 million people. METHODS: This is a descriptive cross-sectional cohort study that analyzes a national, mandatory reporting database for all emergency departments and ambulatory care centers in Ontario over 15 years. Demographics of TSI, trends in the TSI rate, etiology, transfer, disposition, comorbidities, and associated traumatic brain injury or spinal cord injury were analyzed. RESULTS: There were 167,357 TSI-related emergency department visits resulting in 70,684 hospitalizations and 376 deaths. The overall rate of TSI significantly increased from 66.94 to 118.61 per 100,000. Female patients had greater rates of TSI. Older patients had greater rates of TSI, especially related to falls. Fall was found to be the commonest mechanism of TSI, whereas motor vehicle collisions scaled down to the third commonest mechanism of TSI. Sport-related TSI had the greatest percentage of increase in the rate over all mechanisms (221%, P < 0.001). TSI with associated traumatic brain injury comprised 6% of the cohort but had the greatest percentage increase (91%) in the rate compared to all other TSI forms. CONCLUSIONS: The rate of TSI continues to rise in Ontario as the population ages. The rise is primarily attributed to a shift in the epidemiology and etiology of TSI from a younger male population toward an older female population, with falls as the primary injury mechanism. Establishing preventive measures to address this shift is essential.
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Traumatismos de la Médula Espinal/epidemiología , Traumatismos de la Médula Espinal/etiología , Traumatismos Vertebrales/epidemiología , Traumatismos Vertebrales/etiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Ontario/epidemiología , Adulto JovenRESUMEN
We determined various forces involved in shaping codon usage of the genes linked to brain iron accumulation and infantile neuroaxonal dystrophy. The analysis paved the way for determining the forces responsible for composition, expression level, physical properties and codon bias of a gene. An interesting observation related to composition was that, on all the three codon positions, any two of the four nucleotides had similar compositions. CpG, TpA, and GpT dinucleotides were underrepresented with the overrepresentation of TpG dinucleotide. CpG and TpA containing codons ATA, CTA, TCG, and GCG were underrepresented, while TpG dinucleotide containing codon CTG was overrepresented, indicative of compositional constraints importance. GC ending codons were favored when the genome is GC rich, except leucine encoding codon TTG, which exhibits an inverse relationship with GC content. Nucleotide disproportions are found associated with the physical properties of proteins. The values of CAI and ENc are suggestive of low codon bias in genes. Considering the results of neutrality analysis, parity analysis, underrepresentation of TpA and CpG codons, and over-representation of TpG codons, the correlation between the compositional constraints and skew relationships with protein properties suggested the role of all the three selectional, mutational and compositional forces in shaping codon usage with the dominance of selectional pressure.
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Uso de Codones/genética , Trastornos del Metabolismo del Hierro/genética , Leucina/genética , Distrofias Neuroaxonales/genética , Sistema de Registros , Biología Computacional , Bases de Datos Genéticas , HumanosRESUMEN
Cocaine abuse is a significant health hazard with multiple cardiac and neurological complications. Cocaine-induced ischemic stroke can have multiple underlying pathophysiological mechanisms, resulting in various complex neurological presentations. We describe a case of a young man who had a massive ischemic multi-territorial stroke who was managed successfully with decompressive craniectomy with a favorable outcome. Cocaine use should be routinely suspected in young patients presenting with ischemic stroke, and a urine toxicology screen should be part of the initial workup for such patients. Brain magnetic resonance imaging is an essential neuroimaging modality, which is very helpful in confirming the ischemic insult and planning management. Early diagnosis and treatment are crucial due to potential reversibility and reduction of the size of infarcted tissue. In addition, multidisciplinary care, including a vascular neurosurgeon, should be implicated.