MYH7 - related disorders in two Bulgarian families: novel variants in the same region associated with different clinical manifestation and disease penetrance

Author(s):  
Slavena Atemin ◽  
Tihomir Todorov ◽  
Ales Maver ◽  
Teodora Chamova ◽  
Bilyana Georgieva ◽  
...  
2021 ◽  
Author(s):  
Idoia Martinez de LaPiscina ◽  
Nancy Portillo Najera ◽  
Itxaso Rica ◽  
Sonia Gaztambide ◽  
Susan M Webb ◽  
...  

Objective: Pituitary adenomas (PA) are rare in young patients and additional studies are needed to fully understand their pathogenesis in this population. We describe the clinical and genetic characteristics of apparently sporadic PA in a cohort of young patients. Design: Clinical and molecular analysis of 235 patients (age ≤30 years) with a PA. Clinicians from several Spanish and Chilean hospitals provided data. Methods: Genetic screening was performed via next-generation sequencing and comparative genomic hybridization array. Clinical variables were compared among paediatric, adolescent (<19 years) and young adults’ (≥19-30 years) cohorts and types of adenomas. Phenotype-genotype associations were examined. Results: Among the total cohort mean age was 17.3 years. Local mass effect symptoms were present in 22.0% and prolactinomas were the most frequent (44.7%). Disease-causing germline variants were identified in 22 individuals (9.3%), more exactly in 13.1% and 4.7% of the populations aged 0-19 and 19-30 years, respectively; genetically positive patients were younger at diagnosis and had larger tumour size. Healthy family carriers were also identified. Conclusions: Variants in genes associated with syndromic forms of PAs were detected in a large cohort of apparently sporadic pituitary tumours. We have identified novel variants in well-known genes and set the possibility of incomplete disease penetrance in carriers of MEN1 alterations or a limited clinical expression of the syndrome. Despite the low penetrance observed, screening of AIP and MEN1 variants in young patients and relatives is of clinical value.


2014 ◽  
Vol 30 (3) ◽  
pp. 231-237 ◽  
Author(s):  
Markus Quirin ◽  
Regina C. Bode

Self-report measures for the assessment of trait or state affect are typically biased by social desirability or self-delusion. The present work provides an overview of research using a recently developed measure of automatic activation of cognitive representation of affective experiences, the Implicit Positive and Negative Affect Test (IPANAT). In the IPANAT, participants judge the extent to which nonsense words from an alleged artificial language express a number of affective states or traits. The test demonstrates appropriate factorial validity and reliabilities. We review findings that support criterion validity and, additionally, present novel variants of this procedure for the assessment of the discrete emotions such as happiness, anger, sadness, and fear.


2013 ◽  
Vol 44 (02) ◽  
Author(s):  
E Maier ◽  
J Koch ◽  
J Mayr ◽  
C Rauscher ◽  
I Maxonus ◽  
...  

Author(s):  
Joohwan Kim ◽  
Sung Won Kim ◽  
Jin Hee Cho ◽  
Jun Myung Kang ◽  
Byung Guk Kim ◽  
...  

1998 ◽  
Vol 38 (6) ◽  
pp. 979
Author(s):  
Young Chan Kim ◽  
Woo Wuk Choi ◽  
Eui Jong Kim ◽  
Young Jin Lim ◽  
Joo Hyeong Oh ◽  
...  

2018 ◽  
Author(s):  
Andrea Repaci ◽  
Paola Altieri ◽  
Francesco Dianori ◽  
Nicola Salituro ◽  
Giulia Vandi ◽  
...  

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