Familial non-medullary thyroid carcinoma: clinico-pathological features, current knowledge and novelty regarding genetic risk factors

2021 ◽  
Vol 46 (1) ◽  
Author(s):  
Valentina CIRELLO
2017 ◽  
Vol 471 (5) ◽  
pp. 651-658 ◽  
Author(s):  
Francesca Galuppini ◽  
Loris Bertazza ◽  
Susi Barollo ◽  
Elisabetta Cavedon ◽  
Massimo Rugge ◽  
...  

2014 ◽  
Vol 2014 ◽  
pp. 1-11 ◽  
Author(s):  
Khaled K. Abu-Amero ◽  
Abdulrahman M. Al-Muammar ◽  
Altaf A. Kondkar

Keratoconus is a progressive thinning and anterior protrusion of the cornea that results in steepening and distortion of the cornea, altered refractive powers, and reduced vision. Keratoconus has a complex multifactorial etiology, with environmental, behavioral, and multiple genetic components contributing to the disease pathophysiology. Using genome-wide and candidate gene approaches several genomic loci and genes have been identified that highlight the complex molecular etiology of this disease. The review focuses on current knowledge of these genetic risk factors associated with keratoconus.


2013 ◽  
Vol 22 (3) ◽  
pp. 262-267 ◽  
Author(s):  
Nevena K. Kalezic ◽  
Vladan R. Zivaljevic ◽  
Nikola A. Slijepcevic ◽  
Ivan R. Paunovic ◽  
Aleksandar D. Diklic ◽  
...  

2021 ◽  
Author(s):  
Martin Voracek

Hawton’s and van Heeringen’s seminar on suicide is a rich source of current knowledge on the topic and highly useful for generalists. However, genetic risk factors for suicide are underappreciated in the seminar. Although family history of suicide is mentioned as important and genetic loading is listed under distal risk factors, their close connection is not emphasised: familial clustering of suicide is partly due to genetic risk factors. Convergent evidence towards this end has emerged from distinctly different genetically informative research designs. Appropriate consideration of these insights is an important public health agenda and matters for mental health literacy, as international surveys suggest disbelief in the genetics of suicide is widespread among medical and psychology undergraduates and in the general population.


2017 ◽  
Vol 11 (1) ◽  
pp. 201-210 ◽  
Author(s):  
Sarah Moussa ◽  
Günther Grabner ◽  
Josef Ruckhofer ◽  
Marie Dietrich ◽  
Herbert Reitsamer

Background: Keratoconus is characterized as a bilateral, progressive, non-inflammatory thinning of the cornea resulting in blurred vision due to irregular astigmatism. Keratoconus has a multifactorial etiology, with multiple genetic and environmental components contributing to the disease pathophysiology. Several genomic loci and genes have been identified that highlight the complex molecular etiology of this disease. Conclusion: The review focuses on current knowledge of these genetic risk factors associated with keratoconus.


2021 ◽  
Vol 108 (6) ◽  
pp. 691-701
Author(s):  
D -J van Beek ◽  
M Almquist ◽  
A O Bergenfelz ◽  
T J Musholt ◽  
E Nordenström ◽  
...  

Abstract Background Surgery is the curative therapy for patients with medullary thyroid carcinoma (MTC). In determining the extent of surgery, the risk of complications should be considered. The aim of this study was to assess procedure-specific outcomes and risk factors for complications after surgery for MTC. Methods Patients who underwent thyroid surgery for MTC were identified in two European prospective quality databases. Hypoparathyroidism was defined by treatment with calcium/active vitamin D. Recurrent laryngeal nerve (RLN) palsy was diagnosed on laryngoscopy. Complications were considered at least transient if present at last follow-up. Risk factors for at-least transient hypoparathyroidism and RLN palsy were identified by logistic regression analysis. Results A total of 650 patients underwent surgery in 69 centres at a median age of 56 years. Hypoparathyroidism, RLN palsy and bleeding requiring reoperation occurred in 170 (26·2 per cent), 62 (13·7 per cent) and 17 (2·6 per cent) respectively. Factors associated with hypoparathyroidism were central lymph node dissection (CLND) (odds ratio (OR) 2·20, 95 per cent c.i. 1·04 to 4·67), CLND plus unilateral lateral lymph node dissection (LLND) (OR 2·78, 1·20 to 6·43), CLND plus bilateral LLND (OR 2·83, 1·13 to 7·05) and four or more parathyroid glands observed (OR 4·18, 1·46 to 12·00). RLN palsy was associated with CLND plus LLND (OR 4·04, 1·12 to 14·58) and T4 tumours (OR 12·16, 4·46 to 33·18). After compartment-oriented lymph node dissection, N0 status was achieved in 248 of 537 patients (46·2 per cent). Conclusion Complications after surgery for MTC are procedure-specific and may relate to the unavoidable consequences of radical dissection needed in some patients.


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