摘要： The article focuses on the treatment of rare neurological disorders (RNDs). Topics discussed include the RND affected patients undiagnosed due to significant phenotype and genotype heterogeneity in clinical presentation and disease course; mentions the treatment of chronic RNDs that comprises disease-modifying drugs with different mechanisms of action, symptomatic therapies; and estimate the socioeconomic impact and health gains from specialist care centers.

关键词： Cardiac tumors   Stroke   Aneurysms   Fibroelastoma   Myxoma  

摘要： Purpose of ReviewThis article reviews recent literature regarding the neurological manifestations of cardiac tumors, including diagnosis, pathophysiology, and *** FindingsClinical cases of patients with acute ischemic stroke due to cardiac tumors who were treated with intravenous alteplase show a favorable safety profile. Mechanical thrombectomy seems to be a reasonable treatment alternative for these patients, when there is a large vessel occlusion. Histopathology analysis of mechanical thrombectomy specimens may allow the diagnosis of a cardiac tumor. Prolonged time interval between stroke and tumor excision surgery is significantly associated with stroke recurrence. Myxomatous aneurysms are a late complication of cardiac myxomas, which commonly demand imaging follow-up after excision of the primary tumor. Aneurysms are more frequent in patients who present with other embolic complications. Conservative treatment of myxomatous aneurysms is a reasonable strategy, as the majority of aneurysms remain stable over many years. Spontaneous regression of these formations has been documented after excision of the primary tumor. Other complications recently described include acute psychosis and mononeuropathy *** tumors are rare. There are mainly case reports and retrospective case series describing the neurological manifestations of cardiac tumors. Hyperacute stroke treatment seems to be safe, and mechanical thrombectomy is a reasonable treatment. A conservative approach towards myxomatous aneurysms should be considered.

关键词： carbon monoxide   inflammation   lymphocyte   monocyte   neutrophil   platelet  

摘要： Growing evidence indicates that inflammation is associated with neurological sequelae after CO poisoning. Several scores incorporating the peripheral complete blood cell (CBC) count have been introduced as indicators of systemic inflammation. This study investigated whether these scores can improve the predictive accuracy for long-term neurological outcome of acute carbon monoxide (CO) poisoning. Two hundred seventy-nine patients who suffered from acute CO poisoning were included. Data on the demographic details, serial peripheral CBC counts and scores based on peripheral CBC counts (neutrophil-lymphocyte ratio (NLR), monocyte-lymphocyte ratio (MLR), platelet-lymphocyte ratio (PLR), systemic immune inflammation index [SII]) over the first 12 hours after presentation together with the clinical course during hospitalization and long-term neurological outcome were collected. Both a multivariate logistic regression model with only significant univariate predictors and a model with univariate predictors plus each score for long-term neurological outcome were constructed. Patients with a poor long-term neurological outcome had higher neutrophil and monocyte counts and lower lymphocyte counts over the first 12 hours after admission than patients with a good outcome. The diagnostic performance of the NLR, MLR and SII over the first 12 hours for predicting long-term neurological outcome was acceptable. These scores at presentation were independently associated with the long-term neurological outcome. Among these scores, only the SII at presentation significantly improved the predictive accuracy of the model when combined with clinical parameters (AUC 0.949, 95% CI 0.916-0.972 vs AUC 0.923, 95% CI 0.884-0.952 for the model with clinical parameters only, P = 0.0476). The optimal cut-off value for SII at presentation was 1012.2, resulting in a sensitivity of 97% (84.2%-99.9%) and specificity of 64.6% (58.2%-70.6%). The SII at presentation could significantly improve the prognos

关键词： Functional neurological symptoms   Conversion disorder   Non-epileptic seizures   Neuroinflammation   Dissociation  

摘要： There is accumulating evidence that patients with functional neurological symptom disorder (FND) show activation of multiple components of the stress systemthe hypothalamic-pituitary-adrenal axis, autonomic nervous system, and brain regions involved in arousal- and emotion-processing. This study aims to examine whether the immune-inflammatory component of the stress system is also activated. C-reactive protein (CRP) blood titre levels were measured in 79 children and adolescents with FND. CRP values2mg/L suggest low-grade inflammation. CRP values>10mg/L suggest a disease process. Sixty-six percent of subjects (n=52) had CRP titres2mg/L. The upward shift in the distribution of CRP levels suggested low-grade inflammation (median CRP concentration was 4.60mg/L, with 75th and 90th percentiles of 6.1 and 10.3mg/L, respectively). Elevated CRP titres were not explained by sex, pubertal status, BMI, or medical factors. Confounder analyses suggested that history of maltreatment ((2)=2.802, df=1, p=0.094, phi=0.190;=2.823, p=0.04) and a diagnosis of anxiety ((2)=2.731, df=1, p=0.098, phi=0.187;=4.520, p=0.061) contributed to elevated CRP levels. Future research will need to identify the origins and locations of immune cell activation and the pathways and systems contributing to their activation and modulation. Because functional activity in neurons and glial cellsthe brain's innate effector immune cellsis tightly coupled, our finding of elevated CRP titres suggests activation of the immune-inflammatory component of the brain's stress system. A more direct examination of inflammation-related molecules in the brain will help clarify the role of immune-inflammatory processes in FND.

关键词： Adult neurogenesis   Alzheimer's disease  

摘要： The hippocampus is one of the most affected areas in Alzheimer's disease (AD)(1). Moreover, this structure hosts one of the most unique phenomena of the adult mammalian brain, namely, the addition of new neurons throughout life(2). This process, called adult hippocampal neurogenesis (AHN), confers an unparalleled degree of plasticity to the entire hippocampal circuitry(3,4). Nonetheless, direct evidence of AHN in humans has remained elusive. Thus, determining whether new neurons are continuously incorporated into the human dentate gyrus (DG) during physiological and pathological aging is a crucial question with outstanding therapeutic potential. By combining human brain samples obtained under tightly controlled conditions and state-of-the-art tissue processing methods, we identified thousands of immature neurons in the DG of neurologically healthy human subjects up to the ninth decade of life. These neurons exhibited variable degrees of maturation along differentiation stages of AHN. In sharp contrast, the number and maturation of these neurons progressively declined as AD advanced. These results demonstrate the persistence of AHN during both physiological and pathological aging in humans and provide evidence for impaired neurogenesis as a potentially relevant mechanism underlying memory deficits in AD that might be amenable to novel therapeutic strategies.

关键词： adhesion G protein-coupled receptors   GPCR Autoproteolysis INducing domain   GAIN domain   neurological disease   neurodevelopment  

摘要： The family of adhesion G protein-coupled receptors (aGPCRs) consists of 33 members in humans. Although the majority are orphan receptors with unknown functions, many reports have demonstrated critical functions for some members of this family in organogenesis, neurodevelopment, myelination, angiogenesis, and cancer progression. Importantly, mutations in several aGPCRs have been linked to human diseases. The crystal structure of a shared protein domain, the GPCR Autoproteolysis INducing (GAIN) domain, has enabled the discovery of a common signaling mechanism - a tethered agonist - for this class of receptors. A series of recent reports has shed new light on their biological functions and disease relevance. This review focuses on these recent advances in our understanding of aGPCR biology in the nervous system and the untapped potential of aGPCRs as novel therapeutic targets for neurological disease.

关键词： Traumatic brain injury   Polytrauma   Hypothermia   Multiply injuries   Neurological outcome  

摘要： PurposePatients with multiple injuries are particularly susceptible to accidental hypothermia which is correlated with an increased risk of post-traumatic complications and mortality;however, its impact on neurological outcome in cases where there is concomitant traumatic brain injury is *** analyzed severely injured patients (ISS16) including a moderate-to-severe traumatic brain injury (AIS(Head)3). The primary endpoint was objective neurological recovery, expressed as Glasgow Outcome Scale (GOS) score at time of discharge. Secondary endpoints were mortality, systemic inflammatory response syndrome (SIRS), sepsis, acute respiratory distress syndrome (ARDS) and multiple organ dysfunction syndrome (MODS). Statistical analysis included logistic regression (odds ratio). The significance level in all analyses was p=*** analyzed 278 patients (M age=43years, SD 19;M ISS=32.8, SD 10.7). Mortality was 17% (n=14). 102 patients (37%) were hypothermic on admission. Hypothermic patients were more severely injured (ISS 35.611.1 vs. 31.2 +/- 10.1, p=0.001;APACHE II 18.1 +/- 7.4 vs. 16.2 +/- 7.3, p=0.045) and had a higher transfusion requirement. Mortality rate in hypothermic patients was increased (23.5 vs. 13.1%, p=0.03);however, hypothermia was not an independent predictor of mortality. Median GOS at discharge was 3 (IQR 3);in 47% of patients the outcome was favorable (GOS 4 or 5) and 36% it was poor (GOS 2 or 3). There were no differences in post-traumatic complications. Analysis of 73 matched pairs of hypothermic and normothermic patients could not prove hypothermia as an independent predictor of poor neurological outcome (OR 1.7, 95% CI 0.8-3.6, p=0.1) in the total population. However, older patients (>41years) had a 4.2-times higher risk (95% CI 1.4-12.7;p=0.01) of poor neurological outcome, if they were hypothermic on *** hypothermia seems to have a negative impact on neurological recovery in older patients with mu

关键词： Cardiac arrest   Hypoxic liver injury   Hypoxic hepatitis   Ischemic hepatitis   Shock liver   Acute liver failure   Multiple organ failure   Intensive care unit  

摘要： Background: Hypoxic liver injury (HLI) is a frequent and life-threatening complication in critically ill patients that occurs in up to ten percent of critically ill patients. However, there is a lack of data on HLI following cardiac arrest and its clinical implications on outcome. Aim of this study was to investigate incidence, outcome and functional outcome of patients with HLI after in-hospital cardiac arrest (IHCA) and out-of-hospital cardiac arrest (OHCA). Methods: We conducted an analysis of a cardiac arrest registry data over a 7-year period. All patients with non-traumatic OHCA and IHCA with return of spontaneous circulation (ROSC) treated at the emergency department of a tertiary care hospital were included in the study. HLI was defined according to established criteria. Predictors of HLI, occurrence, clinical and neurological outcome were assessed using multivariable regression. Results: Out of 1068 patients after IHCA and OHCA with ROSC, 219 (21%) patients developed HLI. Rate of HLI did not differ significantly in IHCA and OHCA patients. Multivariate regression analysis identified time-to-ROSC [OR 1.18, 95% CI (1.01-1.38);p < 0.05], presence of cardiac failure [OR 2.57, 95% CI (1.65-4.01);p < 0.001] and Charlson comorbidity index [OR 0.83, 95% CI (0.72-0.95);p < 0.01] as independent predictors for occurrence of HLI. Good functional outcome was significantly lower in patients suffering from HLI after 28-days (35% vs. 48% p < 0.001) and 1-year (34% vs. 44%, p < 0.001). Occurrence of HLI was associated with unfavourable neurological outcome [OR 1.74, 95% CI (1.16-2.61);p < 0.01] in multivariate regression analysis. Conclusion: New onset of HLI is a frequent finding after IHCA and OHCA. HLI is associated with increased mortality, unfavourable neurological and overall outcome.

关键词： Burden   neurological disorders   northwestern Nigeria   relative frequency   retrospective study  

摘要： Background: Early diagnosis and management of diseases takes a center stage in the control and prevention of chronic debilitating disorders. It also plays a prominent role in ensuring that patients are better equipped on how to deal with the disease burden. One reliable means of achieving this objective is to retrospectively study the frequency of common diseases. Materials and Methods: This was a retrospective study conducted between January 2010 and December 2014. Relevant data were extracted from patients' case folders. Adjustment to correct for potential biases such as multiple admissions and secondary diagnosis using a covariate on admission data was made to correct for systematic error. Information obtained was analyzed for frequency and ***: The mean age of the patients was 44.9 years (standard deviation 16.7), with an age range of 15-99 years. The most common neurological disorder was stroke which accounted for 21.3%, followed by spinal cord compression syndromes (20.8%), epilepsy (17.3%), parkinsonian syndromes (8.9%), headaches (7.1%), and bacterial meningitis (5.2%). The highest number of cases of neurological disorder occurred within the age group of 45-54 years. Conclusion: The outcome of this study revealed that stroke and spinal cord compression syndromes were the most common neurological disorders in our center. It also showed that individuals within their productive age (50-54 years) were more affected. Given the present state of constrained resources, coordinated efforts at the institutional, state, and federal government levels are essential to encourage prioritization, funding, and implementation of effective health-care delivery system.