Pontocerebellar Hypoplasias – An Image-based Diagnostic Algorithm

2019 ◽  
Author(s):  
Christina Rüsch ◽  
Raimund Kottke ◽  
Bigna K. Bölsterli ◽  
Eugen Boltshauser
Keyword(s):  
Diagnostic Algorithm

Role of implantable loop recorder in the clinical diagnosis of syncope: Results of the introduction of an effective diagnostic tool

2015 ◽  
Vol 156 (15) ◽  
pp. 609-613
Author(s):  
Miklós Somlói ◽  
Emil Toldy-Schedel ◽  
Zoltán Nényei ◽  
Róbert Böszörményi ◽  
János Tomcsányi
Keyword(s):  
Clinical Practice ◽  
Diagnostic Yield ◽  
Diagnostic Algorithm ◽  
Definitive Treatment ◽  
Implantable Loop Recorder ◽  
Everyday Clinical Practice ◽  
Loop Recorder ◽  
Early Application ◽  
Electrocardiographic Monitoring ◽  
The Everyday

Introduction: Extension of electrocardiographic monitoring via loop recorder implantation may increase the diagnostic yield of syncope work-up. Aim: In this retrospective observational study, the authors wanted to evaluate the diagnostic performance of implantable loop recorder in the everyday clinical practice. Method: The authors analyzed the electronically stored data of all patients who underwent loop recorder implantation between 2005 and 2014 in their cardiology department because of recurrent syncope of undetermined origin. Results: There were 52 loop recorder implantations within the study period. During the 167 (±136) days of monitoring, 36 (69.2%) diagnostic events occurred. In two-thirds of events, (46.2% of all monitored patients) a specific arrhythmia diagnosis was reached, allowing definitive treatment in these cases. In this selected population, there was no correlation between age, presence of known high-risk predictors, or accompanying trauma, and the mechanism of syncope. Conclusions: The high diagnostic rate of implantable loop recorder in the everyday clinical practice is in accordance with the findings in prospective clinical studies. This observation supports the early application of loop recorder in the diagnostic algorithm of syncope. Orv. Hetil., 2015, 156(15), 609–613.

Physiological and Hereditary Hyperbilirubinemia in Athletes: Role in Reducing Efficiency and Correction Methodology

2020 ◽  
Vol 5 (5) ◽  
pp. 386-393
Author(s):  
L. M. Gunina ◽  
◽  
Kazys Mylashyus ◽  
Voitenko V. L. ◽  
◽  
...  
Keyword(s):  
Physical Activity ◽  
Functional State ◽  
Oxygen Demand ◽  
Diagnostic Algorithm ◽  
Drug Prevention ◽  
The Body ◽  
Erythrocyte Membranes ◽  
Pharmacological Agents ◽  
Bilirubin Metabolism ◽  
The Individual

Under high-intensity loads, the athlete's bodies take place a number of biochemical reactions and physiological processes that can lead to hyperbilirubinemia. The factors that can initiate the onset of this phenomenon include the syndrome of micro-damage muscle, violation of the integrity of erythrocyte membranes, decreased blood pH, malnutrition and increase oxygen demand of the body. Degree of expression of manifestations of physiological bilirubinemia depends on the level of adaptation of the athlete to the physical activities offered. Hyperbilirubinemia in athletes can be one of the components of the deterioration of the functional state, forming the symptoms of endogenous intoxication. The relevance of this problem in sport lies in the relatively low detection rate of hyperbilirubinemia due to the lack of regular screening studies. However, in drawing up a plan of nutritional- metabolic support for training and competitive activity and recovery measures, must not only the individual reaction of the athlete body to physical activity, but also the severity of shifts in the indicators of bilirubin metabolism and their ratio. The article describes the reasons for the increase in bilirubin levels, which can be caused by both the effect of physical activity and by the presence of pathological processes in athletes. The factors influencing the blood serum’s bilirubin content are also highlighted, which include the state of erythrocyte cell membranes and the rate of hemoglobin destruction, the functional state of the liver, the specifics of physical loads and the use of ergogenic pharmacological agents by athletes. Particular accent has been placed on the illumination of hereditary hyperbilirubinemias, which may have been detected at the stage of selection of athletes. The most common phenomenon is Gilbert's syndrome, which occurs in 2-5% of cases in the general population, is characterized in the clinic by a benign flow and is manifested by episodes of jaundice and an increase in total bilirubin content to moderate values due to indirect. The frequency of detection of hyperbilirubinemias in the population of athletes is 4.68%, among which Gilbert's disease accounts for almost half (48.7%). Conclusion. The work highlighted the pathogenesis and diagnostic algorithm of Gilbert's disease, and also emphasized that its drug prevention and correction in athletes to maintain functional and physical fitness should be carried out taking into account anti-doping rules, which requires upon diagnosis timely receipt of a therapeutic exclusion

Clinical diagnostic algorithm for determining subtype of ischemic stroke in patientsof integrated stroke block

2020 ◽  
Vol 0 (1—2) ◽  
pp. 20-27
Author(s):  
Y. V. Flomin ◽  
G. S. Trepet ◽  
V. G. Guryanov ◽  
L. I. Sokolova
Keyword(s):  
Ischemic Stroke ◽  
Diagnostic Algorithm ◽  
Clinical Diagnostic

scholarly journals Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review

Cells ◽  
2021 ◽  
Vol 10 (1) ◽  
pp. 171
Author(s):  
Federica Arienti ◽  
Giulia Lazzeri ◽  
Maria Vizziello ◽  
Edoardo Monfrini ◽  
Nereo Bresolin ◽  
...  
Keyword(s):  
Risk Factors ◽  
Systematic Review ◽  
Genetic Risk ◽  
Genetic Factors ◽  
Diagnostic Algorithm ◽  
Behavioral Changes ◽  
Corticobasal Syndrome ◽  
Cochrane Library ◽  
Radiological Features ◽  
Genetically Determined

Corticobasal syndrome (CBS) is an atypical parkinsonian presentation characterized by heterogeneous clinical features and different underlying neuropathology. Most CBS cases are sporadic; nevertheless, reports of families and isolated individuals with genetically determined CBS have been reported. In this systematic review, we analyze the demographical, clinical, radiological, and anatomopathological features of genetically confirmed cases of CBS. A systematic search was performed using the PubMed, EMBASE, and Cochrane Library databases, included all publications in English from 1 January 1999 through 1 August 2020. We found forty publications with fifty-eight eligible cases. A second search for publications dealing with genetic risk factors for CBS led to the review of eight additional articles. GRN was the most common gene involved in CBS, representing 28 out of 58 cases, followed by MAPT, C9ORF72, and PRNP. A set of symptoms was shown to be significantly more common in GRN-CBS patients, including visuospatial impairment, behavioral changes, aphasia, and language alterations. In addition, specific demographical, clinical, biochemical, and radiological features may suggest mutations in other genes. We suggest a diagnostic algorithm to help in identifying potential genetic cases of CBS in order to improve the diagnostic accuracy and to better understand the still poorly defined underlying pathogenetic process.

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