Search results for "D12"

Molecular alterations in lesions of anogenital mammary-like glands and their mammary counterparts including hidradenoma papilliferum, intraductal pap…

2017

Lesions affecting anogenital mammary-like glands (AGMLG) are histopathologically very similar to those seen in the breast but whether this morphological similarity is also reflected at the genetic level is unknown. To compare the underlying molecular mechanisms in lesions of AGMLG and their mammary counterparts, we analyzed the mutational profile of 16 anogenital neoplasms including 5 hidradenomas papilliferum (HP), 1 lesion with features of HP and fibroadenoma (FA), 7 FA, 3 phyllodes tumors (PhT)) and 18 analogous breast lesions (6 intraductal papillomas (IDP), 9 FA, and 3 PhT) by high-coverage next generation sequencing (NGS) using a panel comprising 50 cancer-related genes. Additionally,…

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

2018

Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …

Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al.

2021

Backing out of private pension provision - Lessons from Germany

2012

Financing pensions in the EU is a challenge. Many EU countries introduced private pension schemes to compensate declining public pension levels due to reforms made necessary by demographic change. In 2001, Germany introduced the Riester pension. Ten years after introduction the prevalence rate of this voluntary private pension scheme approximates 37 %. However, numerous criticisms raise doubts that the market for Riester products is transparent. Using the 2010 German SAVE survey, this article investigates terminated and dormant Riester contracts on a household level for the first time. Respectively 14.5 and 12.5 % of households who own or have owned a Riester contract terminated or set dorm…

Vitamin D as an effective treatment in human uterine leiomyomas independent of mediator complex subunit 12 mutation.

2021

Objective To study whether vitamin D (VitD) inhibits cell proliferation and Wnt/β-catenin and transforming growth factor−β (TGFβ) signaling pathways in uterine leiomyomas independent of mediator complex subunit 12 (MED12) mutation status. Design Prospective study comparing leiomyoma vs. myometrial tissues and human uterine leiomyoma primary (HULP) cells treated with or without VitD and analyzed by MED12 mutation status. Setting Hospital and university laboratories. Patient(s) Women with uterine leiomyoma without any treatment (n = 37). Intervention(s) Uterine leiomyoma and myometrium samples were collected from women undergoing surgery because of symptomatic leiomyoma pathology. Main Outcom…

Evolution by mean curvature flow of Lagrangian spherical surfaces in complex Euclidean plane

2016

We describe the evolution under the mean curvature flow of embedded Lagrangian spherical surfaces in the complex Euclidean plane $\mathbb{C}^2$. In particular, we answer the Question 4.7 addressed in [Ne10b] by A. Neves about finding out a condition on a starting Lagrangian torus in $\mathbb{C}^2$ such that the corresponding mean curvature flow becomes extinct at finite time and converges after rescaling to the Clifford torus.

What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs

2020

Abstract Background Syndromic congenital heart disease accounts for 30% of cases and can be determined by genetic, environmental or multifactorial causes. In many cases the etiology remains uncertain. Many known genes are responsible for specific morphopathogenetic mechanisms during the development of the heart whose alteration can determine specific phenotypes of cardiac malformations. Case presentation We report on two cases of association of conotruncal heart defect with facial dysmorphisms in sibs. In both cases the malformations’ identification occurred by ultrasound in the prenatal period. It was followed by prenatal invasive diagnosis. The genetic analysis revealed no rearrangements …

A look into the future of the COVID-19 pandemic in Europe : an expert consultation

2021

How will the coronavirus disease 2019 (COVID-19) pandemic develop in the coming months and years? Based on an expert survey, we examine key aspects that are likely to influence COVID-19 in Europe. The future challenges and developments will strongly depend on the progress of national and global vaccination programs, the emergence and spread of variants of concern, and public responses to nonpharmaceutical interventions (NPIs). In the short term, many people are still unvaccinated, VOCs continue to emerge and spread, and mobility and population mixing is expected to increase over the summer. Therefore, policies that lift restrictions too much and too early risk another damaging wave. This ch…

Purchasing Behaviour of Polish Consumers in the Internet

2017

In recent years we may observe the growing importance of the Internet in the lives of consumers. As the data from Central Statistical Office (GUS) shows, in 2015 approximately 75.8% of Polish households had access to the Internet. The value of e-commerce is estimated at PLN 27 billion. 54% of Internet users buy in Polish e-shops and 13% in foreign internet shops. The threat of violations of consumer rights, including cybercrime, is on the increase. This requires caution, the knowledge of legislative solutions and litigation methods of exerting consumers' rights on the part of customers. The article focuses on the purchasing behaviour of Internet users taking into account consumer rights and…

A Brief Review of Ground Penetrating Radar Investigation Results of Ice Caps on Galindez, Winter and Skua Islands (Wilhelm Archipelago, Antarctica) f…

2019

This paper represents results of GPR surveying of the ice caps on Galindez (–64.24716W; –65.24992S), Winter (–64.25954W; –65.24944S) and Skua (–64.26530W; –65.25309S) islands (Wilhelm Archipelago, Antarctica) for the period April 2017 — January 2019. The main objectives were identification of the ice layering, monitoring of interglacial heterogeneities (crevasses, interglacial channels and voids) and measurements of the ice thickness. Methods: Surveying on the glaciers has been done with ground coupled shielded bowtie antenna VIY3-300 (300 MHz) GPR and with air coupled dipole Zond 12-e (75 MHz) antenna system. Monitoring investigation of glacier’s interior has been done with VIY3-300. Zond …