scholarly journals Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms

2018 ◽  
Vol 25 (2) ◽  
pp. T15-T28 ◽  
Author(s):  
Carole Guerin ◽  
Pauline Romanet ◽  
David Taieb ◽  
Thierry Brue ◽  
André Lacroix ◽  
...  

Over the last years, the knowledge of MEN2 and non-MEN2 familial forms of pheochromocytoma (PHEO) has increased. In MEN2, PHEO is the second most frequent disease: the penetrance and age at diagnosis depend on the mutation ofRET. Given the prevalence of bilateral PHEO (50% by age 50), adrenal sparing surgery, aimed at sparing a part of the adrenal cortex to avoid adrenal insufficiency, should be systematically considered in patients with bilateral PHEO. Non-MEN2 familial forms of PHEO now include more than 20 genes: however, only small phenotypic series have been reported, suggesting that phenotypic features of isolated hereditary PHEO must be better explored, and follow-up series are needed to better understand the outcome of patients carrying mutations of these genes. The first part of this review will mainly focus on these points. In the second part, a focus will be given on MEN2 and non-MEN2 familial forms of hyperparathyroidism (HPTH). Again, the management of MEN2 HPTH should be aimed at curing the disease while preserving an optimal quality of life by a tailored parathyroidectomy. The phenotypes and outcome of MEN1-, MEN4- and HRPT2-related HPTH are briefly described, with a focus on the most recent literature data and is compared with familial hypocalciuric hypercalcemia.

2011 ◽  
Vol 29 (24) ◽  
pp. 3263-3269 ◽  
Author(s):  
Lina Jansen ◽  
Antje Herrmann ◽  
Christa Stegmaier ◽  
Susanne Singer ◽  
Hermann Brenner ◽  
...  

Purpose To compare long-term quality of life (QoL) of colorectal cancer survivors with QoL in the general population and investigate changes in QoL of survivors during the 10 years after diagnosis. Patients and Methods Health-related QoL was assessed 1, 3, 5, and 10 years after diagnosis in a population-based cohort starting with 439 patients with colorectal cancer from Saarland, Germany, using the European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire Core 30. QoL after 5 and 10 years and time course of QoL during the 10 years after diagnosis were compared with controls from the general population of Germany, after controlling for sex and age. Results Overall, 234 and 196 patients were still alive after 5 and 10 years, respectively. Of these survivors, 178 (76%) responded in the 5-year follow-up, 133 (68%) in the 10-year follow-up, and 117 (60%) participated in all follow-ups. Over the entire follow-up, younger survivors (age at diagnosis, < 60 years) reported restrictions in role, social, emotional, and cognitive functioning and specific problems like constipation, diarrhea, fatigue, and insomnia. Older survivors (age at diagnosis, ≥ 70 years) reported comparable or even better QoL than controls within the first 3 to 5 years after diagnosis and comparable to worse QoL 5 to 10 years after diagnosis. Conclusion Although younger survivors continuously reported detriments in various QoL dimensions during the 10-year period after diagnosis, detriments in older survivors became apparent in the long run only.


Crisis ◽  
2003 ◽  
Vol 24 (2) ◽  
pp. 73-78 ◽  
Author(s):  
Yves Sarfati ◽  
Blandine Bouchaud ◽  
Marie-Christine Hardy-Baylé

Summary: The cathartic effect of suicide is traditionally defined as the existence of a rapid, significant, and spontaneous decrease in the depressive symptoms of suicide attempters after the act. This study was designed to investigate short-term variations, following a suicide attempt by self-poisoning, of a number of other variables identified as suicidal risk factors: hopelessness, impulsivity, personality traits, and quality of life. Patients hospitalized less than 24 hours after a deliberate (moderate) overdose were presented with the Montgomery-Asberg Depression and Impulsivity Rating Scales, Hopelessness scale, MMPI and World Health Organization's Quality of Life questionnaire (abbreviated versions). They were also asked to complete the same scales and questionnaires 8 days after discharge. The study involved 39 patients, the average interval between initial and follow-up assessment being 13.5 days. All the scores improved significantly, with the exception of quality of life and three out of the eight personality traits. This finding emphasizes the fact that improvement is not limited to depressive symptoms and enables us to identify the relative importance of each studied variable as a risk factor for attempted suicide. The limitations of the study are discussed as well as in particular the nongeneralizability of the sample and setting.


Pneumologie ◽  
2010 ◽  
Vol 64 (S 03) ◽  
Author(s):  
P Velling ◽  
D Skowasch ◽  
S Pabst ◽  
E Jansen ◽  
I Tuleta ◽  
...  
Keyword(s):  

2012 ◽  
Vol 60 (S 01) ◽  
Author(s):  
I Kammerer ◽  
M Höhn ◽  
AH Kiessling ◽  
S Becker ◽  
FU Sack

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