FV 820. Pediatric Moyamoya Angiopathy: A Rapid Progressive Disease in Children < 5 Years of Age

2018 ◽  
Author(s):  
Annette Hackenberg ◽  
Gerasimos Baltsavias ◽  
Nadia Khan
2018 ◽  
Author(s):  
Anna Malczewska ◽  
Beata Kos-Kudla ◽  
Pier-Luigi Filosso ◽  
Harry Aslanian ◽  
Anna Lewczuk ◽  
...  

2020 ◽  
Vol 98 (3) ◽  
pp. 178-184
Author(s):  
T. V. Chernyakova ◽  
A. Yu. Brezhnev ◽  
I. R. Gazizova ◽  
A. V. Kuroyedov ◽  
A. V. Seleznev

In the review we have integrated all up-to-date knowledge concerning clinical course and treatment of glaucoma among pregnant women to help specialists choose a proper policy of treatment for such a complicated group of patients. Glaucoma is a chronic progressive disease. It rarely occurs among childbearing aged women. Nevertheless the probability to manage pregnant patients having glaucoma has been recently increasing. The situation is complicated by the fact that there are no recommendations on how to treat glaucoma among pregnant women. As we know, eye pressure is progressively going down from the first to the third trimester, so we often have to correct hypotensive therapy. Besides, it is necessary to take into account the effect of applied medicines on mother health and evaluate possible teratogenic complications for a fetus. The only medicine against glaucoma which belongs to category B according to FDA classification is brimonidine. Medicines of the other groups should be prescribed with care. Laser treatment or surgery may also be a relevant decision when monitoring patients who are planning pregnancy or just bearing a child. Such treatment should be also accompanied by medicines.


Author(s):  
Jayaraj R. ◽  
Veena G. Rao ◽  
Jyothi Nagalikar

Ducchen’s muscular dystrophy is most common X-linked recessive disorder affecting 30 in 100,000 live male births. The primary cause of this disease is mutations in Dystrophin gene which is essential for the structural and functional integrity of muscle. It is a progressive muscle wasting disease in which patients frequently develop contractures and lose the ability to walk between 6 and 12 years of age. With progressive disease most patients succumb to death from respiratory failure and cardiac dysfunction in their twenties. As this is a genetic disorder we can consider it as Adibala Pravritta Vyadhi. As Mamsa Kshaya is seen at some muscles and Mamsa Vriddhi at other this is an Avarana Vata Vyadhi. In both Upsthambha and Nirupasthmbha Vatavyadhi, Basthi is considered as prime choice of treatment. A Variety of Ksheerabasti in the form of Kalabasti is studied in this condition by taking subjective and objective parameters. As this has given better improvement with no adverse effects in the patient, it can be tried in large number of patients.


2020 ◽  
Vol 6 (2) ◽  
pp. 480-487
Author(s):  
Heuler dos Reis Rodrigues ◽  
Mariane Fernandes Ribeiro ◽  
Carla Cristina Ferreira de Andrade

Motor neuron disease is a term used in several clinical syndromes, among them Progressive Bulbar Paralysis, a rare degenerative and progressive disease of rapid evolution and loss of early respiratory muscle strength. The characteristics are dysphonia, dysphagia, dysarthria, inability in bronchial hygiene, wheezing breaths and atrophy of the tongue musculature, affecting chewing, the grinding of food is increasingly difficult, affecting chewing, causing a potentially disabling and debilitating disease. This study aimed to describe a clinical case of an individual with a clinical diagnosis of Progressive Bulbar Paralysis in Propaedeutics at the Clinical School of the Faculty of the Alto Paranaíba-MG region. The object of study was a 57-year-old male, who underwent an initial physical therapy evaluation and was collected with maximum physiological pressure: maximum inspiratory pressure, maximum expiratory pressure, Borg CR-10 scale, heart rate (HR), respiratory pressure (RF), systolic blood pressure (SBP), diastolic blood pressure (DBP), peripheral oxygen saturation (SPO2). Then, follow a course of action in accordance with the provisions of the literature on the performance of the disease. The results found in this study are satisfactory, for all eight variables analyzed, with the possibility of highlighting the variable Borg CR-10 as the most satisfactory variable compared.


2021 ◽  
Vol 15 ◽  
pp. 117955492199307
Author(s):  
Klaus Hackner ◽  
Anna Buder ◽  
Maximilian J Hochmair ◽  
Matthaeus Strieder ◽  
Christina Grech ◽  
...  

Background: Proof of the T790M resistance mutation is mandatory if patients with EGFR-mutated non-small cell lung cancer (NSCLC) progress under first- or second-generation tyrosine kinase inhibitor therapy. In addition to rebiopsy, analysis of plasma circulating tumor DNA is used to detect T790M resistance mutation. We studied whether sputum is another feasible specimen for detection of EGFR mutations. Methods: Twenty-eight patients with advanced EGFR-mutated NSCLC were included during stable and/or progressive disease. The initial activating EGFR mutations (exon 19 deletions or L858R mutations) at stable disease and at progressive disease (together with T790M) were assessed in simultaneously collected plasma and sputum samples and detected by droplet digital polymerase chain reaction (ddPCR). Results: Activating EGFR mutations were detected in 47% of the plasma samples and 41% of sputum samples during stable disease, and in 57% of plasma samples and 64% of sputum samples during progressive disease. T790M was detected in 44% of the plasma samples and 66% of the sputum samples at progressive disease. In ddPCR T790M-negative results for both specimens (plasma and sputum), negativity was confirmed by rebiopsy in 5 samples. Concordance rate of plasma and sputum for T790M was 0.86, with a positive percent agreement of 1.0 and a negative percent agreement of 0.80. Conclusions: We demonstrated that EGFR mutation analysis with ddPCR is feasible in sputum samples. Combination of plasma and sputum analyses for detection of T790M in NSCLC patients with progressive disease increases the diagnostic yield compared with molecular plasma analysis alone.


2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. i45-i53
Author(s):  
Rupesh Kotecha ◽  
Nicolas Dea ◽  
Jay S Detsky ◽  
Arjun Sahgal

Abstract With the growing incidence of new cases and the increasing prevalence of patients living longer with spine metastasis, a methodological approach to the management of patients with recurrent or progressive disease is increasing in relevance and importance in clinical practice. As a result, disease management has evolved in these patients using advanced surgical and radiotherapy technologies. Five key goals in the management of patients with spine metastases include providing pain relief, controlling metastatic disease at the treated site, improving neurologic deficits, maintaining or improving functional status, and minimizing further mechanical instability. The focus of this review is on advanced reirradiation techniques, given that the majority of patients will be treated with upfront conventional radiotherapy and further treatment on progression is often limited by the cumulative tolerance of nearby organs at risk. This review will also discuss novel surgical approaches such as separation surgery, minimally invasive percutaneous instrumentation, and laser interstitial thermal therapy, which is increasingly being coupled with spine reirradiation to maximize outcomes in this patient population. Lastly, given the complexities of managing recurrent spinal disease, this review emphasizes the importance of multidisciplinary care from neurosurgery, radiation oncology, medical oncology, neuro-oncology, rehabilitation medicine, and palliative care.


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