scholarly journals Pre-symptomatic diagnosis in ALS

2020 ◽  
Vol 176 (3) ◽  
pp. 166-169
Author(s):  
P. Corcia ◽  
S. Lumbroso ◽  
C. Cazeneuve ◽  
K. Mouzat ◽  
W. Camu ◽  
...  
1978 ◽  
pp. 143-146 ◽  
Author(s):  
A. T. Rosenfield ◽  
K. J. W. Taylor ◽  
B. Wolf ◽  
S. Gottlieb ◽  
N. S. Rosenfield ◽  
...  

1964 ◽  
Vol 22 (4) ◽  
pp. 211-215
Author(s):  
C.L. Sharp ◽  
C.L. Sharp

Brain ◽  
2006 ◽  
Vol 129 (3) ◽  
pp. 668-675 ◽  
Author(s):  
Pietro Cortelli ◽  
Daniela Perani ◽  
Pasquale Montagna ◽  
Roberto Gallassi ◽  
Paolo Tinuper ◽  
...  

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 20062-20062
Author(s):  
E. Fiorio ◽  
A. Auriemma ◽  
M. Mandarà ◽  
A. Caldara ◽  
A. Mercanti ◽  
...  

20062 Background: Node positivity and the number of positive nodes are the most important prognostic factors in BC, and affected patients usually have a worse OS. The presence of VI in primary BC is a prognostic factor correlated with a high risk of metastatic spread whose importance led to it being included in the new classification proposed at the VII St. Gallen Consensus Conference. Methods: We studied VI in 272 pts with invasive BC and 1–3 positive nodes in order to evaluate its importance, and correlate it with the pathological, biological and clinical factors of T (1,2,3,4), diameter (0–10 mm, 11–20 mm, 21–50 mm, ≥50 mm), grading (G1, G2, G3), ER and PgR (positive vs negative), Ki-67 proliferative index (low 0–10%; intermediate 11–25%; high 26–100%), c-erbB2 (positive vs negative), age at diagnosis (≤49, 50–65, ≥65 years), type of diagnosis (asymptomatic vs symptomatic) and type of surgery (conservative vs mastectomy). The data were analysed using the chi-squared test. Results: Unlike those without VI, the tumours with node involvement (N+ 1–3) and VI correlated with poor prognostic factors: they were larger (pT2: 62.5% vs 37.5%; p = 0.001), had higher grades (G2: 50.7% vs 49.3%; G3: 72.2% vs 27.8%; p = 0.0004), and were more likely to be ER- (75.6% vs 24.4%; p = 0.004) and c-erbB2+ (50.6% vs 49.4%; p = 0.06). The patients were younger at diagnosis (63% vs 37% aged ≤49 years; p = 0.01) and more likely to have a symptomatic diagnosis (61% vs 39%; p = 0.001). No association with PgR was found. Conclusion: Our results show that primary BC with N+ 1–3 and VI+ correlates with poorer prognostic factors (diameter >20 mm, G2/G3, ER-, c-erbB2+, younger age and symptomatic diagnosis). These correlations are in accordance with the new classification proposed at the VII St. Gallen Consensus Conference concerning high-risk pts with early BC. As these pts are at high risk of recurrence after good local surgery, it is important to offer them adequate adjuvant therapy as a reasonable treatment opinion on the basis of their endocrinal responsiveness. No significant financial relationships to disclose.


ESC CardioMed ◽  
2018 ◽  
pp. 683-685
Author(s):  
Peter J. Schwartz ◽  
Lia Crotti

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited disorder associated with syncope and sudden death manifesting in the young during sympathetic activation. The electrocardiogram is normal and the heart is structurally normal. The diagnosis is usually made with an exercise stress test that shows a typical pattern of onset and offset of adrenergically induced ventricular arrhythmias. Molecular screening of RyR2, the major CPVT gene, is recommended whenever the suspicion of CPVT is high. If a disease-causing mutation is identified, cascade screening allows pre-symptomatic diagnosis among family members. All affected subjects should be treated with beta blockers (nadolol or propranolol). Preliminary data support the association of beta blockers with flecainide. After a cardiac arrest, an implantable cardioverter defibrillator (ICD) should be implanted, but it is accompanied by a disquietingly high incidence of adverse effects. After syncope on beta blocker therapy, left cardiac sympathetic denervation is most effective, preserves quality of life, and does not preclude a subsequent ICD implantation.


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