Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations

2018 ◽  
Vol 17 (4) ◽  
pp. 489-493 ◽  
Author(s):  
Tommaso Schirinzi ◽  
Federica Graziola ◽  
Francesco Nicita ◽  
Lorena Travaglini ◽  
Fabrizia Stregapede ◽  
...  
2013 ◽  
Vol 44 (02) ◽  
Author(s):  
K Brockmann ◽  
H Rosewich ◽  
H Thiele ◽  
U Maschke ◽  
P Huppke ◽  
...  

Brain ◽  
2007 ◽  
Vol 130 (3) ◽  
pp. 828-835 ◽  
Author(s):  
A. Brashear ◽  
W. B. Dobyns ◽  
P. de Carvalho Aguiar ◽  
M. Borg ◽  
C. J. M. Frijns ◽  
...  

2018 ◽  
Vol 49 (05) ◽  
pp. 339-341 ◽  
Author(s):  
Hanene Benrhouma ◽  
Hedia Klaa ◽  
Aida Rouissi ◽  
Myriam Chaabouni ◽  
Ichraf Kraoua ◽  
...  

Abstract ATP1A3 mutations have now been recognized in infants, children, and adults presenting with a diverse group of neurological phenotypes, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and most recently, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome. The phenotypic spectrum of ATP1A3-related neurological disorders continues to expand. In this case study, we report on early life epilepsy with episodic apnea potentially secondary to ATP1A3 mutation in a Tunisian child.


2019 ◽  
Vol 25 ◽  
pp. 277-278
Author(s):  
Alberto Franco-Akel ◽  
Janpreet Bhandohal ◽  
Mohammad Saeed ◽  
Devendra Tripathi
Keyword(s):  

1972 ◽  
Vol 27 (01) ◽  
pp. 114-120 ◽  
Author(s):  
A. A Hassanein ◽  
Th. A El-Garf ◽  
Z El-Baz

SummaryADP-induced platelet aggregation and calcium-induced platelet aggregation tests were studied in 14 diabetic patients in the fasting state and half an hour after an intravenous injection of 0.1 unit insulin/kg body weight. Platelet disaggregation was significantly diminished as compared to a normal control group, and their results were negatively correlated with the corresponding serum cholesterol levels. Insulin caused significant diminution in the ADP-induced platelet aggregation as a result of rapid onset of aggregation and disaggregation. There was also a significant increase in platelet disaggregation. In the calcium-induced platelet aggregation test, there was a significant shortening of the aggregation time, its duration, and the clotting time. The optical density fall due to platelet aggregation showed a significant increase. Insulin may have a role in correcting platelet disaggregation possibly through improvement in the intracellular enzymatic activity.


2017 ◽  
Author(s):  
Chiara Rubino ◽  
Stefano Stagi ◽  
Chiara Petrolini ◽  
Daniela Gioe ◽  
Spina Luisa La ◽  
...  

2012 ◽  
Vol 8 (2) ◽  
pp. 128
Author(s):  
Ali Vazir ◽  
Martin R Cowie ◽  
◽  

Acute heart failure – the rapid onset of, or change in, signs and/or symptoms of heart failure requiring urgent treatment – is a serious clinical syndrome, associated with high mortality and healthcare costs. History, physical examination and early 2D and Doppler echocardiography are crucial to the proper assessment of patients, and will help determine the appropriate monitoring and management strategy. Most patients are elderly and have considerable co-morbidity. Clinical assessment is key to monitoring progress, but a number of clinical techniques – including simple Doppler and echocardiographic tools, pulse contour analysis and impedance cardiography – can help assess the response to therapy. A pulmonary artery catheter is not a routine monitoring tool, but can be very useful in patients with complex physiology, in those who fail to respond to therapy as would be anticipated, or in those being considered for mechanical intervention. As yet, the serial measurement of plasma natriuretic peptides is of limited value, but it does have a role in diagnosis and prognostication. Increasingly, the remote monitoring of physiological variables by completely implanted devices is possible, but the place of such technology in clinical practice is yet to be clearly established.


2020 ◽  
Vol 26 (2) ◽  
pp. 350-356
Author(s):  
Anca Sîrbu

AbstractWith the rapid onset of an unprecedented lifestyle due to the new coronavirus COVID-19 the world academic scene was forced to reform and adapt to the novel circumstances. Although online education cannot be regarded as a groundbreaking endeavour anymore in the21st century, its current character of exclusivity calls for deeper understanding of, and a sharper focus on the “end-consumer” thereof as well as more cautious procedures to be exercised while teaching. While millennials are no longer thought of as being born with a silver spoon in their mouth but with an iPad or any sort of device in their hand (irrespective of their social status), adults are more hesitant when coerced to alter course unexpectedly and turn to new methods of attaining their learning goals. This is why proper communicative approaches need to be thoroughly considered by online instructors. This article aims at presenting teachers with a set of strategies to employ when the beneficiaries of online academic education are adult learners.


2018 ◽  
Vol 2 (3) ◽  
pp. 156-161
Author(s):  
Stacy L McMurray ◽  
Matthew Reynolds ◽  
Matthew S Dinehart ◽  
Scott M Dinehart

Introduction: Topical imiquimod is commonly used in dermatology for treatment of actinic keratoses (AK). Prior studies in humans and mice have suggested the potential for immune recall with imiquimod based on higher degrees of AK clearance and activation of memory γδ T-cells in a mouse model. Anecdotal reports suggest a more rapid time-to-onset of clinical response with second time use of imiquimod. However, the potential for immune recall demonstrated by time-to-onset of clinical response has not been formally investigated.Objective:  The primary objective of this study was to determine if there is a difference in time-to-onset of clinical response between naïve and prior users of topical imiquimod for the treatment of actinic keratoses.Methods:  A total of 92 patients were treated with 5% imiquimod cream for actinic keratoses of the head and neck. Patients were instructed to apply 5% imiquimod cream to the affected areas once daily until reaching a therapeutic endpoint of crusting/scabbing. The primary endpoints in the study were time (days) to onset of erythema and time to onset of crusting/scabbing. Results were self-reported.Results:  The average time (days) to onset of erythema was 5.48 ± 3.19 days in naïve users and 4.7 ± 2.91 days in prior users (p= 0.22). Average time to onset of crusting/scabbing was 9.2 ± 4.34 days in naïve users and 9.02 ± 3.65 days in prior users (p=0.35).Conclusion:  Our study revealed there is no difference in time-to-onset of erythema or scabbing/crusting with second-time use of imiquimod.  While immune recall may be possible with use of imiquimod, the results of this study indicate that it may be independent of time-to-onset of clinical response.  


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